147138[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 592

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 150705	GRCh38/hg38 17q25.3(chr17:78092356-78444214)x1	AFMID, BIRC5 +82 more	Copy number loss	See cases	GLikely benign
Select item 1228172	NM_152468.5(TMC8):c.-309+144G>T	TMC8, TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261052	NM_152468.5(TMC8):c.-239G>C	TMC6, TMC8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1263402	NM_152468.5(TMC8):c.-187C>T	TMC6, TMC8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1982792	NM_152468.5(TMC8):c.-20_7del (p.Met1_Leu3del)	LOC130061792, TMC6 +1 more	Deletion (inframe_deletion +2 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 583090	NM_152468.5(TMC8):c.2TGC[4] (p.Leu3_Pro4insLeu)	TMC6, TMC8 +1 more	Microsatellite (inframe_indel +3 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2200290	NM_152468.5(TMC8):c.6G>A (p.Leu2=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 864074	NM_152468.5(TMC8):c.11C>T (p.Pro4Leu)	TMC6, TMC8 +1 more (P4L)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 663641	NM_152468.5(TMC8):c.25T>C (p.Ser9Pro)	TMC6, TMC8 +1 more (S9P)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2887179	NM_152468.5(TMC8):c.31C>A (p.Arg11=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1038697	NM_152468.5(TMC8):c.31C>G (p.Arg11Gly)	LOC130061792, TMC6 +1 more (R11G)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 526254	NM_152468.5(TMC8):c.33G>C (p.Arg11=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1965840	NM_152468.5(TMC8):c.34G>A (p.Ala12Thr)	LOC130061792, TMC6 +1 more (A12T)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 526242	NM_152468.5(TMC8):c.35C>T (p.Ala12Val)	LOC130061792, TMC6 +1 more (A12V)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 3019669	NM_152468.5(TMC8):c.42G>A (p.Gly14=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1968918	NM_152468.5(TMC8):c.47_48insCTG (p.Pro16_Glu17insTrp)	LOC130061792, TMC6 +1 more	Insertion (inframe_insertion +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1142934	NM_152468.5(TMC8):c.54G>A (p.Pro18=)	TMC8, LOC130061792 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2113443	NM_152468.5(TMC8):c.56A>T (p.Glu19Val)	LOC130061792, TMC6 +1 more (E19V)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1660531	NM_152468.5(TMC8):c.60G>A (p.Glu20=)	TMC8, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1166987	NM_152468.5(TMC8):c.69G>A (p.Glu23=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis +1 more	GBenign
Select item 1474040	NM_152468.5(TMC8):c.70G>A (p.Ala24Thr)	LOC130061792, TMC6 +1 more (A24T)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1169102	NM_152468.5(TMC8):c.77T>C (p.Met26Thr)	LOC130061792, TMC6 +1 more (M26T)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis +1 more	GBenign
Select item 2109312	NM_152468.5(TMC8):c.84G>A (p.Arg28=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2422124	NM_152468.5(TMC8):c.91G>A (p.Gly31Ser)	LOC130061792, TMC6 +1 more (G31S)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2786420	NM_152468.5(TMC8):c.93C>T (p.Gly31=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1455103	NM_152468.5(TMC8):c.94dup (p.Ser32fs)	LOC130061792, TMC6 +1 more (S32fs)	Duplication (frameshift variant +1 more)	Epidermodysplasia verruciformis	GPathogenic
Select item 1438173	NM_152468.5(TMC8):c.95C>T (p.Ser32Phe)	TMC8, TMC6 +1 more (S32F)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1568117	NM_152468.5(TMC8):c.102G>A (p.Thr34=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2719211	NM_152468.5(TMC8):c.105C>G (p.Pro35=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 848446	NM_152468.5(TMC8):c.106G>A (p.Val36Met)	TMC8, LOC130061792 +1 more (V36M)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2134624	NM_152468.5(TMC8):c.118C>T (p.Pro40Ser)	LOC130061792, TMC6 +1 more (P40S)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 755503	NM_152468.5(TMC8):c.118C>G (p.Pro40Ala)	LOC130061792, TMC6 +1 more (P40A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1515904	NM_152468.5(TMC8):c.127A>G (p.Met43Val)	TMC8, TMC6 +1 more (M43V)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 580892	NM_152468.5(TMC8):c.133G>C (p.Asp45His)	LOC130061792, TMC6 +1 more (D45H)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 951950	NM_152468.5(TMC8):c.137A>G (p.Lys46Arg)	LOC130061792, TMC6 +1 more (K46R)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1116813	NM_152468.5(TMC8):c.141C>T (p.Arg47=)	TMC8, LOC130061792 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 526247	NM_152468.5(TMC8):c.141C>G (p.Arg47=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GBenign
Select item 1591955	NM_152468.5(TMC8):c.144C>T (p.Leu48=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 626188	NM_152468.5(TMC8):c.149+4G>T	LOC130061792, TMC6 +1 more	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis +2 more	GUncertain significance
Select item 1586780	NM_152468.5(TMC8):c.149+18G>T	LOC130061792, TMC8 +1 more	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1228666	NM_152468.5(TMC8):c.149+39dup	LOC130061792, TMC6 +1 more	Duplication (intron variant)	not provided	GBenign
Select item 1626402	NM_152468.5(TMC8):c.150-20_150-19del	TMC8, LOC130061792 +1 more	Deletion (intron variant)	Epidermodysplasia verruciformis	GBenign
Select item 2032766	NM_152468.5(TMC8):c.150-18G>A	LOC130061792, TMC6 +1 more	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1539065	NM_152468.5(TMC8):c.150-12A>G	LOC130061792, TMC6 +1 more	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1132951	NM_152468.5(TMC8):c.150-10C>G	TMC8, TMC6 +1 more	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 948577	NM_152468.5(TMC8):c.150-3del	LOC130061792, TMC6 +1 more	Deletion (intron variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1022027	NM_152468.5(TMC8):c.157C>T (p.Arg53Trp)	TMC8, LOC130061792 +1 more (R53W)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 944264	NM_152468.5(TMC8):c.157C>G (p.Arg53Gly)	LOC130061792, TMC6 +1 more (R53G)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1649030	NM_152468.5(TMC8):c.165C>T (p.Pro55=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1051258	NM_152468.5(TMC8):c.166G>C (p.Ala56Pro)	LOC130061792, TMC6 +1 more (A56P)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1148215	NM_152468.5(TMC8):c.168G>A (p.Ala56=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 653590	NM_152468.5(TMC8):c.175C>T (p.Gln59Ter)	TMC6, TMC8 +1 more (Q59*)	Single nucleotide variant (nonsense +1 more)	Epidermodysplasia verruciformis	GPathogenic
Select item 575803	NM_152468.5(TMC8):c.185G>A (p.Arg62His)	LOC130061792, TMC6 +1 more (R62H)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2417217	NM_152468.5(TMC8):c.186C>G (p.Arg62=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2418203	NM_152468.5(TMC8):c.187T>C (p.Trp63Arg)	LOC130061792, TMC6 +1 more (W63R)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 942947	NM_152468.5(TMC8):c.193C>T (p.Arg65Trp)	TMC8, LOC130061792 +1 more (R65W)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1010350	NM_152468.5(TMC8):c.194G>T (p.Arg65Leu)	TMC6, LOC130061792 +1 more (R65L)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2843879	NM_152468.5(TMC8):c.195G>A (p.Arg65=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1475991	NM_152468.5(TMC8):c.209G>A (p.Arg70Gln)	TMC8, LOC130061792 +1 more (R70Q)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1521078	NM_152468.5(TMC8):c.215C>A (p.Thr72Lys)	TMC8, LOC130061792 +1 more (T72K)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 724029	NM_152468.5(TMC8):c.226C>T (p.Arg76Cys)	TMC6, TMC8 +1 more (R76C)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 855536	NM_152468.5(TMC8):c.232C>T (p.Arg78Trp)	TMC6, TMC8 +1 more (R78W)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1523702	NM_152468.5(TMC8):c.248G>C (p.Arg83Pro)	TMC6, TMC8 (R83P)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 935378	NM_152468.5(TMC8):c.250C>G (p.Leu84Val)	TMC6, TMC8 (L84V)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1113281	NM_152468.5(TMC8):c.255C>T (p.Ala85=)	TMC6, TMC8	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 526235	NM_152468.5(TMC8):c.256C>G (p.Arg86Gly)	TMC6, TMC8 (R86G)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis +1 more	GConflicting classifications of pathogenicity
Select item 1490656	NM_152468.5(TMC8):c.259G>C (p.Gly87Arg)	TMC6, TMC8 (G87R)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1623880	NM_152468.5(TMC8):c.264T>C (p.Leu88=)	TMC6, TMC8	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 640900	NM_152468.5(TMC8):c.268C>T (p.Leu90Phe)	TMC6, TMC8 (L90F)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1352753	NM_152468.5(TMC8):c.271T>C (p.Trp91Arg)	TMC8, TMC6 (W91R)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1714716	NM_152468.5(TMC8):c.277G>C (p.Gly93Arg)	TMC6, TMC8 (G93R)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1421227	NM_152468.5(TMC8):c.277G>A (p.Gly93Arg)	TMC6, TMC8 (G93R)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 791676	NM_152468.5(TMC8):c.279G>A (p.Gly93=)	TMC6, TMC8	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis +1 more	GBenign
Select item 2834241	NM_152468.5(TMC8):c.285C>G (p.Leu95=)	TMC6, TMC8	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2194535	NM_152468.5(TMC8):c.288C>T (p.Tyr96=)	TMC6, TMC8	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2790596	NM_152468.5(TMC8):c.291G>A (p.Glu97=)	TMC6, TMC8	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1660767	NM_152468.5(TMC8):c.298+8C>A	TMC6, TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 724836	NM_152468.5(TMC8):c.298+10G>C	TMC8, TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1663792	NM_152468.5(TMC8):c.298+13C>A	TMC6, TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2110018	NM_152468.5(TMC8):c.298+16C>T	TMC6, TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1208365	NM_152468.5(TMC8):c.298+98C>G	TMC6, TMC8 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268728	NM_152468.5(TMC8):c.298+115C>G	LOC130061793, TMC6 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250593	NM_152468.5(TMC8):c.299-80G>A	LOC130061793, TMC6 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250359	NM_152468.5(TMC8):c.299-54G>C	LOC130061793, TMC6 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1558220	NM_152468.5(TMC8):c.299-14C>T	LOC130061793, TMC6 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1429410	NM_152468.5(TMC8):c.307G>C (p.Gly103Arg)	LOC130061793, TMC6 +1 more (G103R)	Single nucleotide variant (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2856617	NM_152468.5(TMC8):c.312A>G (p.Thr104=)	LOC130061793, TMC6 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	TMC8-related condition +1 more	GLikely benign
Select item 2783756	NM_152468.5(TMC8):c.316del (p.Ile106fs)	LOC130061793, TMC6 +1 more (I106fs)	Deletion (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GPathogenic
Select item 959650	NM_152468.5(TMC8):c.319C>T (p.Arg107Trp)	LOC130061793, TMC6 +1 more (R107W)	Single nucleotide variant (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1414580	NM_152468.5(TMC8):c.320G>A (p.Arg107Gln)	TMC8, LOC130061793 +1 more (R107Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2054703	NM_152468.5(TMC8):c.326A>T (p.Tyr109Phe)	TMC6, TMC8 +1 more (Y109F)	Single nucleotide variant (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1373172	NM_152468.5(TMC8):c.340C>A (p.Arg114Ser)	LOC130061793, TMC6 +1 more (R114S)	Single nucleotide variant (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1951486	NM_152468.5(TMC8):c.341G>A (p.Arg114His)	LOC130061793, TMC6 +1 more (R114H)	Single nucleotide variant (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 3014785	NM_152468.5(TMC8):c.360C>T (p.Asn120=)	TMC6, TMC8 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 761008	NM_152468.5(TMC8):c.369C>T (p.Ser123=)	LOC130061793, TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 760412	NM_152468.5(TMC8):c.370C>T (p.Leu124=)	LOC130061793, TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2094845	NM_152468.5(TMC8):c.371T>C (p.Leu124Pro)	LOC130061793, TMC8 (L124P)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance

<< First< Prev

Page of 6