717[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 390

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 3025505	NM_181842.3(ZBTB12):c.1269C>G (p.Arg423=)	C2, ZBTB12	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2458048	NM_181842.3(ZBTB12):c.1134G>A (p.Met378Ile)	C2, ZBTB12 (M378I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333846	NM_181842.3(ZBTB12):c.1016C>T (p.Pro339Leu)	C2, ZBTB12 (P339L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333848	NM_181842.3(ZBTB12):c.913C>T (p.Arg305Trp)	C2, ZBTB12 (R305W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280302	NM_181842.3(ZBTB12):c.822A>C (p.Glu274Asp)	C2, ZBTB12 (E274D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487693	NM_181842.3(ZBTB12):c.781G>T (p.Gly261Cys)	C2, ZBTB12 (G261C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191901	NM_181842.3(ZBTB12):c.757C>G (p.Pro253Ala)	C2, ZBTB12 (P253A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618827	NM_181842.3(ZBTB12):c.611A>G (p.Asp204Gly)	C2, ZBTB12 (D204G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387482	NM_181842.3(ZBTB12):c.567C>G (p.Asp189Glu)	C2, ZBTB12 (D189E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191900	NM_181842.3(ZBTB12):c.520C>T (p.Pro174Ser)	C2, ZBTB12 (P174S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191899	NM_181842.3(ZBTB12):c.479C>T (p.Pro160Leu)	C2, ZBTB12 (P160L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394276	NM_181842.3(ZBTB12):c.418G>A (p.Glu140Lys)	C2, ZBTB12 (E140K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038897	NM_181842.3(ZBTB12):c.240C>T (p.Ile80=)	C2, ZBTB12	Single nucleotide variant (synonymous variant +2 more)	ZBTB12-related disorder +1 more	GBenign
Select item 3191898	NM_181842.3(ZBTB12):c.32A>G (p.Gln11Arg)	C2, ZBTB12 (Q11R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191897	NM_181842.3(ZBTB12):c.18A>T (p.Glu6Asp)	C2, ZBTB12 (E6D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 356240	NM_000063.5(C2):c.-145A>C	C2	Single nucleotide variant (intron variant)	Age related macular degeneration 14 +1 more	GLikely benign
Select item 356241	NM_000063.5(C2):c.-37C>A	C2	Single nucleotide variant (intron variant)	Age related macular degeneration 14 +1 more	GUncertain significance
Select item 907891	NM_000063.6(C2):c.-36G>A	C2	Single nucleotide variant (5 prime UTR variant +1 more)	Age related macular degeneration 14 +1 more	GUncertain significance
Select item 907892	NM_000063.6(C2):c.-21G>A	C2	Single nucleotide variant (5 prime UTR variant +1 more)	Age related macular degeneration 14 +1 more	GUncertain significance
Select item 1452098	NM_000063.6(C2):c.37del (p.Leu13fs)	C2 (L13fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2782000	NM_000063.6(C2):c.46+12G>T	C2	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GLikely benign
Select item 1579010	NM_000063.6(C2):c.46+16G>A	C2	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GBenign
Select item 2785671	NM_000063.6(C2):c.47-17T>G	C2	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GLikely benign
Select item 2189386	NM_000063.6(C2):c.47-9C>G	C2	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GUncertain significance
Select item 1973979	NM_000063.6(C2):c.59C>T (p.Ser20Leu)	C2 (S20L)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1557103	NM_000063.6(C2):c.60G>A (p.Ser20=)	C2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2748811	NM_000063.6(C2):c.72C>T (p.Cys24=)	C2	Single nucleotide variant (intron variant +3 more)	not provided	GLikely benign
Select item 904584	NM_000063.6(C2):c.73C>T (p.Pro25Ser)	C2 (P25S)	Single nucleotide variant (missense variant +3 more)	Complement component 2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 3262433	NM_000063.6(C2):c.81C>G (p.Asn27Lys)	C2 (N27K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 356242	NM_000063.6(C2):c.81C>T (p.Asn27=)	C2	Single nucleotide variant (synonymous variant +3 more)	Complement component 2 deficiency +1 more	GUncertain significance
Select item 2557712	NM_000063.6(C2):c.90C>G (p.Ile30Met)	C2 (I30M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1563705	NM_000063.6(C2):c.90C>A (p.Ile30=)	C2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1022307	NM_000063.6(C2):c.92C>T (p.Ser31Leu)	C2 (S31L)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 3002151	NM_000063.6(C2):c.93G>A (p.Ser31=)	C2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2609738	NM_000063.6(C2):c.104T>C (p.Phe35Ser)	C2 (F35S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3262435	NM_000063.6(C2):c.109C>A (p.Leu37Ile)	C2 (L37I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 904585	NM_000063.6(C2):c.109C>T (p.Leu37Phe)	C2 (L37F)	Single nucleotide variant (missense variant +3 more)	Age related macular degeneration 14 +1 more	GUncertain significance
Select item 3135835	NM_000063.6(C2):c.136C>T (p.Leu46Phe)	C2 (L46F)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 904586	NM_000063.6(C2):c.149C>T (p.Ser50Phe)	C2 (S50F +1 more)	Single nucleotide variant (missense variant +2 more)	Age related macular degeneration 14 +1 more	GUncertain significance
Select item 2276131	NM_000063.6(C2):c.158A>T (p.Gln53Leu)	C2 (R15W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1378985	NM_000063.6(C2):c.158A>G (p.Gln53Arg)	C2 (R15G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2748897	NM_000063.6(C2):c.160G>A (p.Gly54Ser)	C2 (G54S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1546432	NM_000063.6(C2):c.165G>A (p.Leu55=)	C2 (C17Y)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2081560	NM_000063.6(C2):c.173C>T (p.Ser58Phe)	C2 (S58F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2055413	NM_000063.6(C2):c.174C>T (p.Ser58=)	C2 (P20L)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1484995	NM_000063.6(C2):c.176C>A (p.Pro59Gln)	C2 (P59Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3004179	NM_000063.6(C2):c.189G>C (p.Leu63=)	C2 (C25S)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1606035	NM_000063.6(C2):c.201C>T (p.Ser67=)	C2 (A29V)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 3135838	NM_000063.6(C2):c.202G>A (p.Gly68Arg)	C2 (G68R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1636705	NM_000063.6(C2):c.207G>A (p.Gln69=)	C2 (S31N)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 3003517	NM_000063.6(C2):c.217C>T (p.Pro73Ser)	C2 (P73S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 356243	NM_000063.6(C2):c.218C>T (p.Pro73Leu)	C2 (P73L +1 more)	Single nucleotide variant (missense variant +3 more)	Complement component 2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1502908	NM_000063.6(C2):c.223G>A (p.Ala75Thr)	C2 (A75T)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2077453	NM_000063.6(C2):c.228C>A (p.Thr76=)	C2 (P38H)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1950930	NM_000063.6(C2):c.229C>A (p.Arg77=)	C2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1373059	NM_000063.6(C2):c.229C>T (p.Arg77Trp)	C2 (R77W)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1538252	NM_000063.6(C2):c.231G>A (p.Arg77=)	C2 (G39D)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 905372	NM_000063.6(C2):c.245C>T (p.Ala82Val)	C2 (A82V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1498002	NM_000063.6(C2):c.246G>A (p.Ala82=)	C2 (R44Q)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1633929	NM_000063.6(C2):c.256+11C>T	C2 (P51L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2785211	NM_000063.6(C2):c.257-15T>G	C2	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GLikely benign
Select item 1561587	NM_000063.6(C2):c.257-10C>T	C2	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GLikely benign
Select item 1429593	NM_000063.6(C2):c.259G>C (p.Val87Leu)	C2 (V87L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1363686	NM_000063.6(C2):c.262C>T (p.Arg88Cys)	C2 (R59C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2403182	NM_000063.6(C2):c.263G>A (p.Arg88His)	C2 (R59H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2238526	NM_000063.6(C2):c.271G>A (p.Ala91Thr)	C2 (A62T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2054147	NM_000063.6(C2):c.275_276del (p.Pro92fs)	C2 (P92fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1533471	NM_000063.6(C2):c.279C>T (p.Val93=)	C2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 905373	NM_000063.6(C2):c.283T>G (p.Phe95Val)	C2 (F66V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 2135155	NM_000063.6(C2):c.298T>C (p.Tyr100His)	C2 (Y100H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1600565	NM_000063.6(C2):c.309G>T (p.Arg103=)	C2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 356244	NM_000063.6(C2):c.313G>A (p.Gly105Arg)	C2 (G105R +1 more)	Single nucleotide variant (missense variant +2 more)	Complement component 2 deficiency +1 more	GUncertain significance
Select item 1919395	NM_000063.6(C2):c.314G>T (p.Gly105Val)	C2 (G76V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1613256	NM_000063.6(C2):c.324C>T (p.Pro108=)	C2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2055423	NM_000063.6(C2):c.325G>A (p.Val109Met)	C2 (V109M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 905374	NM_000063.6(C2):c.337G>A (p.Val113Met)	C2 (V84M +1 more)	Single nucleotide variant (missense variant +2 more)	Age related macular degeneration 14 +1 more	GUncertain significance
Select item 493426	NM_000063.6(C2):c.345C>T (p.Phe115=)	C2	Single nucleotide variant (synonymous variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 2415298	NM_000063.6(C2):c.348G>A (p.Glu116=)	C2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2020011	NM_000063.6(C2):c.363C>G (p.Phe121Leu)	C2 (F121L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1521890	NM_000063.6(C2):c.370C>T (p.Arg124Trp)	C2 (R124W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1422612	NM_000063.6(C2):c.371G>A (p.Arg124Gln)	C2 (R124Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1480326	NM_000063.6(C2):c.377C>T (p.Ser126Leu)	C2 (S97L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2703811	NM_000063.6(C2):c.381T>A (p.Pro127=)	C2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 906979	NM_000063.6(C2):c.386G>A (p.Arg129His)	C2 (R100H +1 more)	Single nucleotide variant (missense variant +2 more)	Complement component 2 deficiency +2 more	GUncertain significance
Select item 3262438	NM_000063.6(C2):c.397C>A (p.Pro133Thr)	C2 (P104T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2108511	NM_000063.6(C2):c.399C>T (p.Pro133=)	C2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1959446	NM_000063.6(C2):c.402C>A (p.Asn134Lys)	C2 (N105K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1581201	NM_000063.6(C2):c.402C>T (p.Asn134=)	C2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2060126	NM_000063.6(C2):c.407T>G (p.Met136Arg)	C2 (M107R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1461922	NM_000063.6(C2):c.421A>G (p.Thr141Ala)	C2 (T112A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1507196	NM_000063.6(C2):c.437A>G (p.Asn146Ser)	C2 (N146S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2018337	NM_000063.6(C2):c.442G>A (p.Ala148Thr)	C2 (A119T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1910308	NM_000063.6(C2):c.442+14C>T	C2	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GLikely benign
Select item 906980	NM_000063.6(C2):c.442+15T>G	C2	Single nucleotide variant (genic upstream transcript variant +1 more)	Complement component 2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2741833	NM_000063.6(C2):c.442+18T>C	C2	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GLikely benign
Select item 1901325	NM_000063.6(C2):c.443-21_443-20delinsTA	C2	Indel (intron variant +1 more)	not provided	GLikely benign
Select item 1168856	NM_000063.6(C2):c.443-16C>T	C2	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GBenign
Select item 906981	NM_000063.6(C2):c.443-4G>A	C2 (R22H)	Single nucleotide variant (missense variant +3 more)	Complement component 2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1400333	NM_000063.6(C2):c.446G>C (p.Gly149Ala)	C2 (G17A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance

<< First< Prev

Page of 4