9241[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 194

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 1230964	NM_005450.6(NOG):c.-385C>A	NOG	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1258795	NM_005450.6(NOG):c.-73G>A	NOG	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 986156	NM_005450.6(NOG):c.4G>T (p.Glu2Ter)	NOG (E2*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1534138	NM_005450.6(NOG):c.6G>A (p.Glu2=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046931	NM_005450.6(NOG):c.33C>G (p.Leu11=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976382	NM_005450.6(NOG):c.39C>A (p.Ala13=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653004	NM_005450.6(NOG):c.39C>T (p.Ala13=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978303	NM_005450.6(NOG):c.40C>T (p.Leu14=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 992497	NM_005450.6(NOG):c.41T>C (p.Leu14Pro)	NOG (L14P)	Single nucleotide variant (missense variant)	NOG-related-symphlangism spectrum disorder	GPathogenic
Select item 2717781	NM_005450.6(NOG):c.42G>A (p.Leu14=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990171	NM_005450.6(NOG):c.43G>A (p.Val15Met)	NOG (V15M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771612	NM_005450.6(NOG):c.43G>T (p.Val15Leu)	NOG (V15L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910751	NM_005450.6(NOG):c.45G>T (p.Val15=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854882	NM_005450.6(NOG):c.48G>A (p.Val16=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 6701	NM_005450.6(NOG):c.58del (p.Leu20fs)	NOG (L20fs)	Deletion (frameshift variant)	Symphalangism-brachydactyly syndrome	GPathogenic
Select item 827845	NM_005450.6(NOG):c.64dup (p.Ala22fs)	NOG (A22fs)	Duplication (frameshift variant)	Symphalangism-brachydactyly syndrome	GPathogenic
Select item 2841276	NM_005450.6(NOG):c.64G>A (p.Ala22Thr)	NOG (A22T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2534343	NM_005450.6(NOG):c.67A>G (p.Thr23Ala)	NOG (T23A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 497276	NM_005450.6(NOG):c.68C>T (p.Thr23Ile)	NOG (T23I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1600585	NM_005450.6(NOG):c.70C>T (p.Pro24Ser)	NOG (P24S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2983506	NM_005450.6(NOG):c.75C>T (p.Ala25=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913106	NM_005450.6(NOG):c.78C>T (p.Gly26=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2308297	NM_005450.6(NOG):c.89A>T (p.Tyr30Phe)	NOG (Y30F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2793303	NM_005450.6(NOG):c.96C>T (p.His32=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2573208	NM_005450.6(NOG):c.101G>C (p.Arg34Pro)	NOG (R34P)	Single nucleotide variant (missense variant)	Proximal symphalangism 1A	GUncertain significance
Select item 2016211	NM_005450.6(NOG):c.101G>T (p.Arg34Leu)	NOG (R34L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 6708	NM_005450.6(NOG):c.103C>G (p.Pro35Ala)	NOG (P35A)	Single nucleotide variant (missense variant)	Brachydactyly type B2	GPathogenic
Select item 6703	NM_005450.6(NOG):c.103C>T (p.Pro35Ser)	NOG (P35S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 6697	NM_005450.6(NOG):c.104C>G (p.Pro35Arg)	NOG (P35R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2550235	NM_005450.6(NOG):c.107C>T (p.Ala36Val)	NOG (A36V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1437308	NM_005450.6(NOG):c.109C>T (p.Pro37Ser)	NOG (P37S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919381	NM_005450.6(NOG):c.121C>T (p.Leu41=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1200838	NM_005450.6(NOG):c.122T>G (p.Leu41Arg)	NOG (L41R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420069	NM_005450.6(NOG):c.125C>T (p.Pro42Leu)	NOG (P42L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2879678	NM_005450.6(NOG):c.127C>T (p.Leu43=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933197	NM_005450.6(NOG):c.127C>G (p.Leu43Val)	NOG (L43V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305223	NM_005450.6(NOG):c.136C>T (p.Leu46Phe)	NOG (L46F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1372352	NM_005450.6(NOG):c.142G>A (p.Glu48Lys)	NOG (E48K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1561132	NM_005450.6(NOG):c.153C>T (p.Asp51=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788816	NM_005450.6(NOG):c.155C>G (p.Pro52Arg)	NOG (P52R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972111	NM_005450.6(NOG):c.159C>G (p.Ile53Met)	NOG (I53M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185329	NM_005450.6(NOG):c.170A>G (p.Lys57Arg)	NOG (K57R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510275	NM_005450.6(NOG):c.173A>G (p.Glu58Gly)	NOG (E58G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3009479	NM_005450.6(NOG):c.180T>A (p.Asp60Glu)	NOG (D60E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388663	NM_005450.6(NOG):c.180T>C (p.Asp60=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991302	NM_005450.6(NOG):c.186C>T (p.Asn62=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910332	NM_005450.6(NOG):c.201C>T (p.Arg67=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2035822	NM_005450.6(NOG):c.203C>T (p.Ser68Leu)	NOG (S68L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503592	NM_005450.6(NOG):c.208C>T (p.Leu70Phe)	NOG (L70F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173080	NM_005450.6(NOG):c.213G>C (p.Gly71=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1483671	NM_005450.6(NOG):c.214G>A (p.Gly72Ser)	NOG (G72S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356287	NM_005450.6(NOG):c.219C>G (p.His73Gln)	NOG (H73Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939617	NM_005450.6(NOG):c.223G>C (p.Asp75His)	NOG (D75H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2581938	NM_005450.6(NOG):c.245C>A (p.Ser82Ter)	NOG (S82*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3012865	NM_005450.6(NOG):c.246G>A (p.Ser82=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 6705	NM_005450.6(NOG):c.252dup (p.Glu85fs)	NOG (E85fs)	Duplication (frameshift variant)	Stapes ankylosis with broad thumbs and toes	GPathogenic
Select item 2892213	NM_005450.6(NOG):c.247C>T (p.Pro83Ser)	NOG (P83S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1375843	NM_005450.6(NOG):c.248C>A (p.Pro83His)	NOG (P83H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180260	NM_005450.6(NOG):c.251C>T (p.Pro84Leu)	NOG (P84L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445574	NM_005450.6(NOG):c.251C>A (p.Pro84His)	NOG (P84H)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1592614	NM_005450.6(NOG):c.252C>G (p.Pro84=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815588	NM_005450.6(NOG):c.254A>T (p.Glu85Val)	NOG (E85V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006028	NM_005450.6(NOG):c.259C>T (p.Arg87Trp)	NOG (R87W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1414450	NM_005450.6(NOG):c.260G>C (p.Arg87Pro)	NOG (R87P)	Single nucleotide variant (missense variant)	NOG-related disorder +1 more	GUncertain significance
Select item 2019665	NM_005450.6(NOG):c.261G>T (p.Arg87=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1578415	NM_005450.6(NOG):c.264C>T (p.Pro88=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1417596	NM_005450.6(NOG):c.266G>A (p.Gly89Asp)	NOG (G89D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 752746	NM_005450.6(NOG):c.267C>A (p.Gly89=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021440	NM_005450.6(NOG):c.272G>C (p.Gly91Ala)	NOG (G91A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498511	NM_005450.6(NOG):c.272G>A (p.Gly91Asp)	NOG (G91D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377073	NM_005450.6(NOG):c.275G>A (p.Gly92Glu)	NOG (G92E)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2138090	NM_005450.6(NOG):c.283G>A (p.Ala95Thr)	NOG (A95T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439870	NM_005450.6(NOG):c.286G>A (p.Gly96Arg)	NOG (G96R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854242	NM_005450.6(NOG):c.287G>A (p.Gly96Glu)	NOG (G96E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380536	NM_005450.6(NOG):c.290G>A (p.Gly97Asp)	NOG (G97D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941558	NM_005450.6(NOG):c.291C>T (p.Gly97=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 450688	NM_005450.6(NOG):c.296A>G (p.Glu99Gly)	NOG (E99G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3030269	NM_005450.6(NOG):c.301C>T (p.Leu101=)	NOG	Single nucleotide variant (synonymous variant)	NOG-related disorder	GLikely benign
Select item 2807225	NM_005450.6(NOG):c.305C>A (p.Ala102Glu)	NOG (A102E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501933	NM_005450.6(NOG):c.308A>T (p.Glu103Val)	NOG (E103V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 6704	NM_005450.6(NOG):c.328C>T (p.Gln110Ter)	NOG (Q110*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2759742	NM_005450.6(NOG):c.329A>T (p.Gln110Leu)	NOG (Q110L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843627	NM_005450.6(NOG):c.331C>A (p.Arg111=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2200452	NM_005450.6(NOG):c.338C>T (p.Ser113Leu)	NOG (S113L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424371	NM_005450.6(NOG):c.340G>A (p.Gly114Arg)	NOG (G114R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2890161	NM_005450.6(NOG):c.343G>A (p.Ala115Thr)	NOG (A115T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846695	NM_005450.6(NOG):c.346A>C (p.Met116Leu)	NOG (M116L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991494	NM_005450.6(NOG):c.350C>G (p.Pro117Arg)	NOG (P117R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370888	NM_005450.6(NOG):c.353G>A (p.Ser118Asn)	NOG (S118N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987629	NM_005450.6(NOG):c.354C>A (p.Ser118Arg)	NOG (S118R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1522426	NM_005450.6(NOG):c.355G>T (p.Glu119Ter)	NOG (E119*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 985803	NM_005450.6(NOG):c.358del (p.Ile120fs)	NOG (I120fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3009939	NM_005450.6(NOG):c.361A>C (p.Lys121Gln)	NOG (K121Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1591592	NM_005450.6(NOG):c.363A>G (p.Lys121=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110255	NM_005450.6(NOG):c.378C>T (p.Ser126=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710016	NM_005450.6(NOG):c.379G>A (p.Glu127Lys)	NOG (E127K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299560	NM_005450.6(NOG):c.379G>T (p.Glu127Ter)	NOG (E127*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic

<< First< Prev

Page of 2