ClinVar for MedGen (Select 698415) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3767151	NM_001171.6(ABCC6):c.2341G>A (p.Ala781Thr)	ABCC6 (A667T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 3730850	NM_001171.6(ABCC6):c.3542G>A (p.Gly1181Asp)	ABCC6 (G1067D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3578690	NM_022166.4(XYLT1):c.380C>T (p.Pro127Leu)	XYLT1 (P127L)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 2 +1 more	GUncertain significance
Select item 3578648	NM_001171.6(ABCC6):c.4G>A (p.Ala2Thr)	ABCC6 (A2T)	Single nucleotide variant (missense variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578647	NM_001171.6(ABCC6):c.17A>T (p.Glu6Val)	ABCC6 (E6V)	Single nucleotide variant (missense variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578646	NM_001171.6(ABCC6):c.26C>T (p.Ala9Val)	ABCC6 (A9V)	Single nucleotide variant (missense variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578645	NM_001171.6(ABCC6):c.34G>C (p.Gly12Arg)	ABCC6 (G12R)	Single nucleotide variant (missense variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578644	NM_001171.6(ABCC6):c.67G>A (p.Ala23Thr)	ABCC6 (A23T)	Single nucleotide variant (missense variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578643	NM_001171.6(ABCC6):c.99A>T (p.Arg33Ser)	ABCC6 (R33S)	Single nucleotide variant (missense variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578641	NM_001171.6(ABCC6):c.107G>A (p.Gly36Glu)	ABCC6 (G36E)	Single nucleotide variant (missense variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578640	NM_001171.6(ABCC6):c.111C>G (p.Val37=)	ABCC6	Single nucleotide variant (synonymous variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578639	NM_001171.6(ABCC6):c.126G>A (p.Met42Ile)	ABCC6 (M42I)	Single nucleotide variant (missense variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578638	NM_001171.6(ABCC6):c.170A>G (p.His57Arg)	ABCC6 (H57R)	Single nucleotide variant (missense variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578637	NM_001171.6(ABCC6):c.181G>A (p.Gly61Ser)	ABCC6 (G61S)	Single nucleotide variant (missense variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578636	NM_001171.6(ABCC6):c.190C>T (p.Arg64Trp)	ABCC6 (R64W)	Single nucleotide variant (missense variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578635	NM_001171.6(ABCC6):c.215A>G (p.Lys72Arg)	ABCC6 (K72R)	Single nucleotide variant (missense variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578634	NM_001171.6(ABCC6):c.219G>A (p.Met73Ile)	ABCC6 (M73I)	Single nucleotide variant (missense variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578633	NM_001171.6(ABCC6):c.219+2T>C	ABCC6 (V74A)	Single nucleotide variant (missense variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GLikely pathogenic
Select item 3578632	NM_001171.6(ABCC6):c.263C>T (p.Ala88Val)	ABCC6 (A88V)	Single nucleotide variant (missense variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578631	NM_001171.6(ABCC6):c.274T>C (p.Trp92Arg)	ABCC6 (W92R)	Single nucleotide variant (missense variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578630	NM_001171.6(ABCC6):c.293C>T (p.Thr98Met)	ABCC6 (T98M)	Single nucleotide variant (missense variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578629	NM_001171.6(ABCC6):c.315del (p.Ile106fs)	ABCC6 (I106fs)	Deletion (frameshift variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GLikely pathogenic
Select item 3578628	NM_001171.6(ABCC6):c.328G>A (p.Val110Met)	ABCC6 (V110M)	Single nucleotide variant (missense variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578627	NM_001171.6(ABCC6):c.341C>T (p.Thr114Met)	ABCC6 (T114M)	Single nucleotide variant (missense variant +2 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578626	NM_001171.6(ABCC6):c.341_345+8delinsG	ABCC6	Indel (splice donor variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GPathogenic
Select item 3578625	NM_001171.6(ABCC6):c.372C>A (p.Thr124=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578624	NM_001171.6(ABCC6):c.466T>A (p.Ser156Thr)	ABCC6 (S42T +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578622	NM_001171.6(ABCC6):c.561G>A (p.Ala187=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578621	NM_001171.6(ABCC6):c.572C>G (p.Pro191Arg)	ABCC6 (P191R +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578619	NM_001171.6(ABCC6):c.601-11_601-10insGGA	ABCC6	Insertion (intron variant)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578618	NM_001171.6(ABCC6):c.601-5T>A	ABCC6	Single nucleotide variant (intron variant)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578617	NM_001171.6(ABCC6):c.640G>A (p.Ala214Thr)	ABCC6 (A100T +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578616	NM_001171.6(ABCC6):c.675G>C (p.Arg225Ser)	ABCC6 (R111S +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578615	NM_001171.6(ABCC6):c.706C>T (p.Leu236Phe)	ABCC6 (L122F +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578614	NM_001171.6(ABCC6):c.719G>A (p.Gly240Glu)	ABCC6 (G240E +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578613	NM_001171.6(ABCC6):c.732_734delinsAGA (p.Ser245Glu)	ABCC6 (S245E +1 more)	Indel (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578612	NM_001171.6(ABCC6):c.749C>G (p.Ser250Cys)	ABCC6 (S250C +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578611	NM_001171.6(ABCC6):c.765G>T (p.Glu255Asp)	ABCC6 (E141D +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578610	NM_001171.6(ABCC6):c.791G>A (p.Arg264Gln)	ABCC6 (R150Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578609	NM_001171.6(ABCC6):c.792G>T (p.Arg264=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578608	NM_001171.6(ABCC6):c.795-11C>T	ABCC6	Single nucleotide variant (intron variant)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578607	NM_001171.6(ABCC6):c.844G>C (p.Ala282Pro)	ABCC6 (A282P +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578606	NM_001171.6(ABCC6):c.856G>C (p.Glu286Gln)	ABCC6 (E286Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578605	NM_001171.6(ABCC6):c.868del (p.Arg290fs)	ABCC6 (R290fs +1 more)	Deletion (frameshift variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GLikely pathogenic
Select item 3578604	NM_001171.6(ABCC6):c.889C>T (p.Arg297Cys)	ABCC6 (R183C +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578603	NM_001171.6(ABCC6):c.939G>C (p.Leu313=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578602	NM_001171.6(ABCC6):c.940G>C (p.Gly314Arg)	ABCC6 (G200R +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578601	NM_001171.6(ABCC6):c.998G>C (p.Ser333Thr)	ABCC6 (S219T +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578600	NM_001171.6(ABCC6):c.998+5G>A	ABCC6	Single nucleotide variant (intron variant)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578599	NM_001171.6(ABCC6):c.1001T>G (p.Leu334Arg)	ABCC6 (L220R +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578598	NM_001171.6(ABCC6):c.1016T>C (p.Ile339Thr)	ABCC6 (I225T +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578597	NM_001171.6(ABCC6):c.1021G>C (p.Asp341His)	ABCC6 (D341H +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578596	NM_001171.6(ABCC6):c.1060_1062delinsTTT (p.Val354Phe)	ABCC6 (V354F +1 more)	Indel (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578595	NM_001171.6(ABCC6):c.1088A>G (p.Gln363Arg)	ABCC6 (Q249R +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578594	NM_001171.6(ABCC6):c.1111A>G (p.Met371Val)	ABCC6 (M257V +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578593	NM_001171.6(ABCC6):c.1145G>A (p.Arg382Gln)	ABCC6 (R382Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578592	NM_001171.6(ABCC6):c.1234C>G (p.Leu412Val)	ABCC6 (L412V +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578591	NM_001171.6(ABCC6):c.1345G>A (p.Gly449Arg)	ABCC6 (G449R +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578590	NM_001171.6(ABCC6):c.1364C>T (p.Ala455Val)	ABCC6 (A455V +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578589	NM_001171.6(ABCC6):c.1431+3T>G	ABCC6	Single nucleotide variant (intron variant)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578588	NM_001171.6(ABCC6):c.1459C>T (p.Arg487Trp)	ABCC6 (R373W +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578586	NM_001171.6(ABCC6):c.1466G>A (p.Arg489Gln)	ABCC6 (R375Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578585	NM_001171.6(ABCC6):c.1471A>G (p.Thr491Ala)	ABCC6 (T491A +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578584	NM_001171.6(ABCC6):c.1506G>T (p.Lys502Asn)	ABCC6 (K388N +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578583	NM_001171.6(ABCC6):c.1636-3dup	ABCC6	Duplication (intron variant)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578582	NM_001171.6(ABCC6):c.1742A>C (p.Gln581Pro)	ABCC6 (Q467P +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578581	NM_001171.6(ABCC6):c.1763T>G (p.Ile588Ser)	ABCC6 (I474S +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578580	NM_001171.6(ABCC6):c.1884C>A (p.Cys628Ter)	ABCC6 (C514* +1 more)	Single nucleotide variant (nonsense +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GLikely pathogenic
Select item 3578579	NM_001171.6(ABCC6):c.2106_2107delinsAG (p.Gln703Glu)	ABCC6 (Q703E +1 more)	Indel (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578578	NM_001171.6(ABCC6):c.2248G>T (p.Gly750Cys)	ABCC6 (G636C +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578577	NM_001171.6(ABCC6):c.2336C>T (p.Pro779Leu)	ABCC6 (P665L +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578576	NM_001171.6(ABCC6):c.2356C>A (p.His786Asn)	ABCC6 (H672N +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578575	NM_001171.6(ABCC6):c.2395G>A (p.Gly799Ser)	ABCC6 (G799S +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578573	NM_001171.6(ABCC6):c.2536G>A (p.Ala846Thr)	ABCC6 (A732T +1 more)	Single nucleotide variant (missense variant)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578572	NM_001171.6(ABCC6):c.2553G>A (p.Leu851=)	ABCC6	Single nucleotide variant (synonymous variant)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578571	NM_001171.6(ABCC6):c.2569C>G (p.Pro857Ala)	ABCC6 (P743A +1 more)	Single nucleotide variant (missense variant)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578570	NM_001171.6(ABCC6):c.2590G>T (p.Glu864Ter)	ABCC6 (E750* +1 more)	Single nucleotide variant (nonsense)	Pseudoxanthoma elasticum, forme fruste +2 more	GLikely pathogenic
Select item 3578569	NM_001171.6(ABCC6):c.2666+1G>A	ABCC6	Single nucleotide variant (splice donor variant)	Pseudoxanthoma elasticum, forme fruste +2 more	GLikely pathogenic
Select item 3578568	NM_001171.6(ABCC6):c.2749G>C (p.Gly917Arg)	ABCC6 (G917R +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578567	NM_001171.6(ABCC6):c.2796del (p.Thr933fs)	ABCC6 (T933fs +1 more)	Deletion (frameshift variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GLikely pathogenic
Select item 3578566	NM_001171.6(ABCC6):c.2827G>T (p.Gly943Cys)	ABCC6 (G829C +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578565	NM_001171.6(ABCC6):c.2890C>T (p.Arg964Trp)	ABCC6 (R850W +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578564	NM_001171.6(ABCC6):c.2894G>A (p.Gly965Asp)	ABCC6 (G851D +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578561	NM_001171.6(ABCC6):c.3107T>C (p.Phe1036Ser)	ABCC6 (F1036S +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578560	NM_001171.6(ABCC6):c.3205T>G (p.Tyr1069Asp)	ABCC6 (Y1069D +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578559	NM_001171.6(ABCC6):c.3235G>C (p.Val1079Leu)	ABCC6 (V1079L +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578558	NM_001171.6(ABCC6):c.3239T>C (p.Val1080Ala)	ABCC6 (V1080A +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578556	NM_001171.6(ABCC6):c.3530T>G (p.Leu1177Arg)	ABCC6 (L1177R +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578555	NM_001171.6(ABCC6):c.3563C>T (p.Thr1188Met)	ABCC6 (T1188M +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578554	NM_001171.6(ABCC6):c.3565T>C (p.Cys1189Arg)	ABCC6 (C1075R +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578553	NM_001171.6(ABCC6):c.3592A>G (p.Ser1198Gly)	ABCC6 (S1198G +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578552	NM_001171.6(ABCC6):c.3698T>C (p.Val1233Ala)	ABCC6 (V1233A +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578551	NM_001171.6(ABCC6):c.3746G>A (p.Arg1249Lys)	ABCC6 (R1135K +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578550	NM_001171.6(ABCC6):c.3783G>C (p.Gln1261His)	ABCC6 (Q1147H +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578549	NM_001171.6(ABCC6):c.3822C>A (p.Tyr1274Ter)	ABCC6 (Y1274* +1 more)	Single nucleotide variant (nonsense +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GLikely pathogenic
Select item 3578548	NM_001171.6(ABCC6):c.3844G>C (p.Val1282Leu)	ABCC6 (V1168L +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578547	NM_001171.6(ABCC6):c.3920C>T (p.Ser1307Phe)	ABCC6 (S1193F +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578546	NM_001171.6(ABCC6):c.3955G>T (p.Ala1319Ser)	ABCC6 (A1205S +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578545	NM_001171.6(ABCC6):c.4041+3G>A	ABCC6	Single nucleotide variant (intron variant)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance
Select item 3578544	NM_001171.6(ABCC6):c.4081G>T (p.Asp1361Tyr)	ABCC6 (D1361Y +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +2 more	GUncertain significance

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