SDCCAG8[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 296898	NM_006642.5(SDCCAG8):c.-131T>C	SDCCAG8	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 296899	NM_006642.5(SDCCAG8):c.-130C>A	SDCCAG8	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 296900	NM_006642.5(SDCCAG8):c.-121C>T	SDCCAG8	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 296901	NM_006642.5(SDCCAG8):c.-106G>T	SDCCAG8	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 296902	NM_006642.5(SDCCAG8):c.-98C>T	SDCCAG8	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 260005	NM_006642.5(SDCCAG8):c.-47T>A	SDCCAG8	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign
Select item 296903	NM_006642.5(SDCCAG8):c.-4G>A	SDCCAG8	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 3347615	NM_006642.5(SDCCAG8):c.10T>C (p.Ser4Pro)	SDCCAG8 (S4P)	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GUncertain significance
Select item 3352833	NM_006642.5(SDCCAG8):c.11C>T (p.Ser4Phe)	SDCCAG8 (S4F)	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GUncertain significance
Select item 2176103	NM_006642.5(SDCCAG8):c.11C>G (p.Ser4Cys)	SDCCAG8 (S4C)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1985166	NM_006642.5(SDCCAG8):c.12C>T (p.Ser4=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1137572	NM_006642.5(SDCCAG8):c.12C>G (p.Ser4=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 1491235	NM_006642.5(SDCCAG8):c.14C>T (p.Pro5Leu)	SDCCAG8 (P5L)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1649550	NM_006642.5(SDCCAG8):c.15G>T (p.Pro5=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 959154	NM_006642.5(SDCCAG8):c.16G>C (p.Glu6Gln)	SDCCAG8 (E6Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1470091	NM_006642.5(SDCCAG8):c.22T>C (p.Ser8Pro)	SDCCAG8 (S8P)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3353517	NM_006642.5(SDCCAG8):c.25A>G (p.Thr9Ala)	SDCCAG8 (T9A)	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GUncertain significance
Select item 2934878	NM_006642.5(SDCCAG8):c.28C>T (p.Leu10=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 649596	NM_006642.5(SDCCAG8):c.31G>C (p.Glu11Gln)	SDCCAG8 (E11Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3348745	NM_006642.5(SDCCAG8):c.36G>C (p.Glu12Asp)	SDCCAG8 (E12D)	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GUncertain significance
Select item 1443186	NM_006642.5(SDCCAG8):c.37A>T (p.Ile13Phe)	SDCCAG8 (I13F)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2937967	NM_006642.5(SDCCAG8):c.43G>A (p.Gly15Arg)	SDCCAG8 (G15R)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1918532	NM_006642.5(SDCCAG8):c.46C>T (p.Gln16Ter)	SDCCAG8 (Q16*)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GPathogenic
Select item 2634742	NM_006642.5(SDCCAG8):c.47A>G (p.Gln16Arg)	SDCCAG8 (Q16R)	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GUncertain significance
Select item 2930072	NM_006642.5(SDCCAG8):c.48G>A (p.Gln16=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 1513320	NM_006642.5(SDCCAG8):c.48G>T (p.Gln16His)	SDCCAG8 (Q16H)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2114010	NM_006642.5(SDCCAG8):c.62_64dup (p.Leu21_Arg22insLeu)	SDCCAG8	Duplication (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1148798	NM_006642.5(SDCCAG8):c.63C>T (p.Leu21=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 3158890	NM_006642.5(SDCCAG8):c.64C>T (p.Arg22Trp)	SDCCAG8 (R22W)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 631599	NM_006642.5(SDCCAG8):c.67+1dup	SDCCAG8	Duplication (splice donor variant)	SDCCAG8-related disorder	GUncertain significance
Select item 969829	NM_006642.5(SDCCAG8):c.66G>T (p.Arg22=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1928879	NM_006642.5(SDCCAG8):c.67+10T>C	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1664694	NM_006642.5(SDCCAG8):c.67+17CT[3]	SDCCAG8	Microsatellite (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1498825	NM_006642.5(SDCCAG8):c.67+17C>G	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1670522	NM_006642.5(SDCCAG8):c.67+18T>G	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2050608	NM_006642.5(SDCCAG8):c.67+20T>G	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 1564756	NM_006642.5(SDCCAG8):c.67+20T>C	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1250280	NM_006642.5(SDCCAG8):c.67+164T>C	SDCCAG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2936181	NM_006642.5(SDCCAG8):c.68-20T>C	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2951908	NM_006642.5(SDCCAG8):c.68-19C>T	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 1139239	NM_006642.5(SDCCAG8):c.68-18G>A	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 1007622	NM_006642.5(SDCCAG8):c.68A>G (p.Glu23Gly)	SDCCAG8 (E23G)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2026548	NM_006642.5(SDCCAG8):c.71A>G (p.His24Arg)	SDCCAG8 (H24R)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 971501	NM_006642.5(SDCCAG8):c.76A>G (p.Ser26Gly)	SDCCAG8 (S26G)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2160069	NM_006642.5(SDCCAG8):c.82del (p.Ser28fs)	SDCCAG8 (S28fs)	Deletion (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GPathogenic
Select item 1388930	NM_006642.5(SDCCAG8):c.83G>A (p.Ser28Asn)	SDCCAG8 (S28N)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1284848	NM_006642.5(SDCCAG8):c.93A>G (p.Gln31=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1179068	NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs)	SDCCAG8 (A35fs)	Deletion (5 prime UTR variant +1 more)	SDCCAG8-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1044453	NM_006642.5(SDCCAG8):c.99A>G (p.Thr33=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 1716180	NM_006642.5(SDCCAG8):c.103G>T (p.Ala35Ser)	SDCCAG8 (A35S)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1466454	NM_006642.5(SDCCAG8):c.115G>A (p.Gly39Ser)	SDCCAG8 (G39S)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 873593	NM_006642.5(SDCCAG8):c.117C>A (p.Gly39=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2156101	NM_006642.5(SDCCAG8):c.118G>A (p.Asp40Asn)	SDCCAG8 (D40N)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 950654	NM_006642.5(SDCCAG8):c.122T>C (p.Val41Ala)	SDCCAG8 (V41A)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2108925	NM_006642.5(SDCCAG8):c.124A>G (p.Thr42Ala)	SDCCAG8 (T42A)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1005503	NM_006642.5(SDCCAG8):c.136G>C (p.Asp46His)	SDCCAG8 (D46H)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1603297	NM_006642.5(SDCCAG8):c.138T>C (p.Asp46=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 1422206	NM_006642.5(SDCCAG8):c.152C>T (p.Ser51Phe)	SDCCAG8 (S51F)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 665268	NM_006642.5(SDCCAG8):c.160A>T (p.Thr54Ser)	SDCCAG8 (T54S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1608167	NM_006642.5(SDCCAG8):c.168G>A (p.Val56=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1011384	NM_006642.5(SDCCAG8):c.169G>A (p.Gly57Arg)	SDCCAG8 (G57R)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 705496	NM_006642.5(SDCCAG8):c.180C>T (p.Asp60=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1982541	NM_006642.5(SDCCAG8):c.181G>A (p.Ala61Thr)	SDCCAG8 (A61T)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 641196	NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser)	SDCCAG8 (A61S)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2109795	NM_006642.5(SDCCAG8):c.182C>A (p.Ala61Asp)	SDCCAG8 (A61D)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2634964	NM_006642.5(SDCCAG8):c.190G>A (p.Ala64Thr)	SDCCAG8 (A64T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2062723	NM_006642.5(SDCCAG8):c.191C>T (p.Ala64Val)	SDCCAG8 (A64V)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3353163	NM_006642.5(SDCCAG8):c.195G>T (p.Trp65Cys)	SDCCAG8 (W65C)	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GUncertain significance
Select item 1079154	NM_006642.5(SDCCAG8):c.198C>T (p.Pro66=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 591885	NM_006642.5(SDCCAG8):c.199G>T (p.Glu67Ter)	SDCCAG8 (E67*)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GPathogenic
Select item 968615	NM_006642.5(SDCCAG8):c.207A>G (p.Gln69=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2116435	NM_006642.5(SDCCAG8):c.209A>C (p.Gln70Pro)	SDCCAG8 (Q70P)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 3316794	NM_006642.5(SDCCAG8):c.214C>A (p.His72Asn)	SDCCAG8 (H72N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1647986	NM_006642.5(SDCCAG8):c.216T>C (p.His72=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 631600	NM_006642.5(SDCCAG8):c.220+2T>C	SDCCAG8	Single nucleotide variant (splice donor variant)	Senior-Loken syndrome 7 +2 more	GConflicting classifications of pathogenicity
Select item 1046942	NM_006642.5(SDCCAG8):c.220+3G>A	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2935790	NM_006642.5(SDCCAG8):c.220+7G>A	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2165181	NM_006642.5(SDCCAG8):c.220+17A>G	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1112802	NM_006642.5(SDCCAG8):c.220+20C>T	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 1228529	NM_006642.5(SDCCAG8):c.220+95A>G	SDCCAG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223259	NM_006642.5(SDCCAG8):c.221-144del	SDCCAG8	Deletion (intron variant)	not provided	GBenign
Select item 2936630	NM_006642.5(SDCCAG8):c.221-14del	SDCCAG8	Deletion (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2929169	NM_006642.5(SDCCAG8):c.221-13T>C	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2921358	NM_006642.5(SDCCAG8):c.221-10T>C	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 704141	NM_006642.5(SDCCAG8):c.221-4A>G	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 212139	NM_006642.5(SDCCAG8):c.221-2A>G	SDCCAG8	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 16 +1 more	GPathogenic
Select item 938526	NM_006642.5(SDCCAG8):c.221-1G>A	SDCCAG8	Single nucleotide variant (splice acceptor variant)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 3358492	NM_006642.5(SDCCAG8):c.231C>T (p.Leu77=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GLikely benign
Select item 1452529	NM_006642.5(SDCCAG8):c.234dup (p.Asp79fs)	SDCCAG8 (D79fs)	Duplication (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GPathogenic
Select item 934835	NM_006642.5(SDCCAG8):c.233A>G (p.Lys78Arg)	SDCCAG8 (K78R)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 3344244	NM_006642.5(SDCCAG8):c.235G>T (p.Asp79Tyr)	SDCCAG8 (D79Y)	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GUncertain significance
Select item 296904	NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu)	SDCCAG8 (D79E)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 835298	NM_006642.5(SDCCAG8):c.244C>A (p.Arg82Ser)	SDCCAG8 (R82S)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 392659	NM_006642.5(SDCCAG8):c.244C>T (p.Arg82Cys)	SDCCAG8 (R82C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 2179960	NM_006642.5(SDCCAG8):c.245G>T (p.Arg82Leu)	SDCCAG8 (R82L)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 954914	NM_006642.5(SDCCAG8):c.245G>A (p.Arg82His)	SDCCAG8 (R82H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GUncertain significance
Select item 1400329	NM_006642.5(SDCCAG8):c.250C>T (p.Gln84Ter)	SDCCAG8 (Q84*)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GPathogenic
Select item 1955937	NM_006642.5(SDCCAG8):c.252del (p.Ala85fs)	SDCCAG8 (A85fs)	Deletion (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GPathogenic
Select item 1974655	NM_006642.5(SDCCAG8):c.255A>G (p.Ala85=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 1696284	NM_006642.5(SDCCAG8):c.257A>T (p.Asp86Val)	SDCCAG8 (D86V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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