6663[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 417

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	See cases	GPathogenic
Select item 57632	GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1	ANKRD54, BAIAP2L2 +122 more	Copy number loss	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 545010	GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1	ANKRD54, C22orf23 +17 more	Copy number loss	Waardenburg syndrome type 4C	GPathogenic
Select item 341607	NM_006941.4(SOX10):c.*1179G>A	POLR2F, SOX10	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 341608	NM_006941.4(SOX10):c.*1084TC[1]	POLR2F, SOX10	Microsatellite (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GLikely benign
Select item 341609	NM_006941.4(SOX10):c.*932G>A	POLR2F, SOX10	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GLikely benign
Select item 903229	NM_006941.4(SOX10):c.*830G>C	LOC129391280, POLR2F +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	PCWH syndrome +1 more	GUncertain significance
Select item 341610	NM_006941.4(SOX10):c.*712G>T	LOC129391280, POLR2F +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 341611	NM_006941.4(SOX10):c.*711C>T	LOC129391280, POLR2F +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GBenign
Select item 341612	NM_006941.4(SOX10):c.*643A>G	POLR2F, SOX10	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 899622	NM_006941.4(SOX10):c.*568T>A	POLR2F, SOX10	Single nucleotide variant (3 prime UTR variant +1 more)	PCWH syndrome +1 more	GUncertain significance
Select item 341613	NM_006941.4(SOX10):c.*537G>C	POLR2F, SOX10	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GBenign
Select item 341614	NM_006941.4(SOX10):c.*475G>A	POLR2F, SOX10	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GBenign
Select item 900753	NM_006941.4(SOX10):c.*327G>A	POLR2F, SOX10	Single nucleotide variant (3 prime UTR variant +1 more)	PCWH syndrome +1 more	GUncertain significance
Select item 341615	NM_006941.4(SOX10):c.*158A>G	POLR2F, SOX10	Single nucleotide variant (intron variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 900754	NM_006941.4(SOX10):c.*27G>A	POLR2F, SOX10	Single nucleotide variant (3 prime UTR variant +1 more)	PCWH syndrome +1 more	GBenign
Select item 7400	NM_006941.4(SOX10):c.1400_*10del (p.Ter467Xaa)	POLR2F, SOX10	Deletion (stop lost +1 more)	PCWH syndrome	GLikely pathogenic
Select item 228398	NM_006941.3(SOX10):c.(?_698)_(1401_?)del	POLR2F, SOX10	Deletion	Rare genetic deafness	GPathogenic
Select item 1065613	NM_006941.4(SOX10):c.1400A>T (p.Ter467Leu)	POLR2F, SOX10	Single nucleotide variant (stop lost +1 more)	PCWH syndrome	GLikely pathogenic
Select item 2752174	NM_006941.4(SOX10):c.1399T>C (p.Ter467Gln)	POLR2F, SOX10	Single nucleotide variant (stop lost +1 more)	not provided	GLikely pathogenic
Select item 915460	NM_006941.4(SOX10):c.1379del (p.Tyr460fs)	POLR2F, SOX10 (Y460fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 3042538	NM_006941.4(SOX10):c.1377A>G (p.Val459=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	SOX10-related disorder	GLikely benign
Select item 805532	NM_006941.4(SOX10):c.1352_1359dup (p.His454fs)	POLR2F, SOX10 (H454fs)	Duplication (frameshift variant +1 more)	Waardenburg syndrome type 2E +3 more	GPathogenic/Likely pathogenic
Select item 227958	NM_006941.4(SOX10):c.1353C>T (p.Ser451=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 620636	NM_006941.4(SOX10):c.1315_1329del (p.Ile439_Ser443del)	POLR2F, SOX10	Deletion (inframe_indel +2 more)	Waardenburg syndrome type 4A	GPathogenic
Select item 2731215	NM_006941.4(SOX10):c.1312G>A (p.Ala438Thr)	POLR2F, SOX10 (A438T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2201148	NM_006941.4(SOX10):c.1311G>A (p.Thr437=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2118793	NM_006941.4(SOX10):c.1305C>G (p.Leu435=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1424074	NM_006941.4(SOX10):c.1298G>A (p.Arg433Gln)	POLR2F, SOX10 (R433Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025121	NM_006941.4(SOX10):c.1293G>A (p.Ser431=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2919756	NM_006941.4(SOX10):c.1292C>T (p.Ser431Leu)	POLR2F, SOX10 (S431L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2046699	NM_006941.4(SOX10):c.1284G>T (p.Met428Ile)	POLR2F, SOX10 (M428I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2851250	NM_006941.4(SOX10):c.1272del (p.Phe425fs)	POLR2F, SOX10 (F425fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2037393	NM_006941.4(SOX10):c.1269G>A (p.Ser423=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	SOX10-related disorder +1 more	GLikely benign
Select item 2175035	NM_006941.4(SOX10):c.1257T>C (p.Ser419=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2637724	NM_006941.4(SOX10):c.1252G>A (p.Ala418Thr)	POLR2F, SOX10 (A418T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 666758	NM_006941.4(SOX10):c.1245G>A (p.Ser415=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 900755	NM_006941.4(SOX10):c.1244C>T (p.Ser415Leu)	POLR2F, SOX10 (S415L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2046700	NM_006941.4(SOX10):c.1241A>C (p.His414Pro)	POLR2F, SOX10 (H414P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2683614	NM_006941.4(SOX10):c.1236T>A (p.Tyr412Ter)	POLR2F, SOX10 (Y412*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2874655	NM_006941.4(SOX10):c.1232A>G (p.Tyr411Cys)	POLR2F, SOX10 (Y411C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2531055	NM_006941.4(SOX10):c.1220C>T (p.Pro407Leu)	POLR2F, SOX10 (P407L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2748832	NM_006941.4(SOX10):c.1209dup (p.Asp404Ter)	POLR2F, SOX10 (D404*)	Duplication (nonsense +1 more)	not provided	GUncertain significance
Select item 518422	NM_006941.4(SOX10):c.1205_1209del (p.Asp401_Tyr402insTer)	POLR2F, SOX10	Deletion (frameshift variant +2 more)	Waardenburg syndrome type 4C	GPathogenic
Select item 1607234	NM_006941.4(SOX10):c.1208C>A (p.Ser403Tyr)	POLR2F, SOX10 (S403Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2445675	NM_006941.4(SOX10):c.1195_1196del (p.Gln399fs)	POLR2F, SOX10 (Q399fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 995940	NM_006941.4(SOX10):c.1195C>T (p.Gln399Ter)	POLR2F, SOX10 (Q399*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1353113	NM_006941.4(SOX10):c.1193C>T (p.Pro398Leu)	POLR2F, SOX10 (P398L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1695045	NM_006941.4(SOX10):c.1190G>A (p.Arg397His)	POLR2F, SOX10 (R397H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 817744	NM_006941.4(SOX10):c.1160_1179dup (p.Ser394fs)	POLR2F, SOX10 (S394fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 915453	NM_006941.4(SOX10):c.1155_1174dup (p.Phe392fs)	POLR2F, SOX10 (F392fs)	Duplication (frameshift variant +1 more)	PCWH syndrome	GPathogenic
Select item 2700103	NM_006941.4(SOX10):c.1173dup (p.Phe392fs)	POLR2F, SOX10 (F392fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1528392	NM_006941.4(SOX10):c.1173C>T (p.Ala391=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 545014	NM_006941.4(SOX10):c.1169C>G (p.Ser390Ter)	POLR2F, SOX10 (S390*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 1027697	NM_006941.4(SOX10):c.1165G>A (p.Gly389Ser)	POLR2F, SOX10 (G389S)	Single nucleotide variant (missense variant +1 more)	PCWH syndrome +1 more	GUncertain significance
Select item 1953291	NM_006941.4(SOX10):c.1161C>G (p.His387Gln)	POLR2F, SOX10 (H387Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3005136	NM_006941.4(SOX10):c.1152C>T (p.Ser384=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653127	NM_006941.4(SOX10):c.1135G>T (p.Ala379Ser)	POLR2F, SOX10 (A379S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 7402	NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter)	POLR2F, SOX10 (Q377*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 133302	NM_006941.4(SOX10):c.1127C>G (p.Ser376Ter)	POLR2F, SOX10 (S376*)	Single nucleotide variant (nonsense +1 more)	PCWH syndrome	GLikely pathogenic
Select item 504832	NM_006941.4(SOX10):c.1125C>T (p.Thr375=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 374690	NM_006941.4(SOX10):c.1114C>G (p.Gln372Glu)	POLR2F, SOX10 (Q372E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 902432	NM_006941.4(SOX10):c.1111G>A (p.Asp371Asn)	POLR2F, SOX10 (D371N)	Single nucleotide variant (missense variant +1 more)	PCWH syndrome +1 more	GUncertain significance
Select item 902431	NM_006941.4(SOX10):c.1111G>T (p.Asp371Tyr)	POLR2F, SOX10 (D371Y)	Single nucleotide variant (missense variant +1 more)	PCWH syndrome +1 more	GUncertain significance
Select item 1217747	NM_006941.4(SOX10):c.1110C>T (p.Thr370=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1962296	NM_006941.4(SOX10):c.1109C>T (p.Thr370Ile)	POLR2F, SOX10 (T370I)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 503991	NM_006941.4(SOX10):c.1107del (p.His368_Tyr369insTer)	POLR2F, SOX10	Deletion (nonsense +1 more)	Waardenburg syndrome type 4C +1 more	GPathogenic/Likely pathogenic
Select item 547786	NM_006941.4(SOX10):c.1095dup (p.Pro366fs)	POLR2F, SOX10 (P366fs)	Duplication (frameshift variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 444587	NM_006941.4(SOX10):c.1094G>A (p.Gly365Glu)	POLR2F, SOX10 (G365E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1205874	NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg)	POLR2F, SOX10 (G365R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1188631	NM_006941.4(SOX10):c.1091A>C (p.Gln364Pro)	POLR2F, SOX10 (Q364P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 488041	NM_006941.4(SOX10):c.1091del (p.Gln364fs)	POLR2F, SOX10 (Q364fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 2A	GLikely pathogenic
Select item 547785	NM_006941.4(SOX10):c.1090C>T (p.Gln364Ter)	POLR2F, SOX10 (Q364*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1704560	NM_006941.4(SOX10):c.1086dup (p.Pro363fs)	POLR2F, SOX10 (P363fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1386978	NM_006941.4(SOX10):c.1086del (p.Gln364fs)	POLR2F, SOX10 (Q364fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 7404	NM_006941.4(SOX10):c.698-740_1085delinsCCT	POLR2F, SOX10	Indel (intron variant +1 more)	Waardenburg syndrome type 4C	GPathogenic
Select item 1627458	NM_006941.4(SOX10):c.1083G>A (p.Ala361=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 772068	NM_006941.4(SOX10):c.1082C>T (p.Ala361Val)	POLR2F, SOX10 (A361V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 726911	NM_006941.4(SOX10):c.1082C>G (p.Ala361Gly)	POLR2F, SOX10 (A361G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 982663	NM_006941.4(SOX10):c.1081G>A (p.Ala361Thr)	POLR2F, SOX10 (A361T)	Single nucleotide variant (intron variant +1 more)	Waardenburg syndrome type 4C +1 more	GConflicting classifications of pathogenicity
Select item 703593	NM_006941.4(SOX10):c.1080C>T (p.Thr360=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 7396	NM_006941.4(SOX10):c.1077_1078del (p.Glu359fs)	POLR2F, SOX10 (E359fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 767431	NM_006941.4(SOX10):c.1077G>C (p.Glu359Asp)	POLR2F, SOX10 (E359D)	Single nucleotide variant (missense variant +1 more)	SOX10-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 995939	NM_006941.4(SOX10):c.1063C>T (p.Gln355Ter)	POLR2F, SOX10 (Q355*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 2653128	NM_006941.4(SOX10):c.1038A>G (p.Ser346=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 637874	NM_006941.4(SOX10):c.1037C>G (p.Ser346Ter)	POLR2F, SOX10 (S346*)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 735263	NM_006941.4(SOX10):c.1029C>G (p.Pro343=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2076415	NM_006941.4(SOX10):c.1027C>A (p.Pro343Thr)	POLR2F, SOX10 (P343T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1049752	NM_006941.4(SOX10):c.1018G>A (p.Val340Met)	POLR2F, SOX10 (V340M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2796906	NM_006941.4(SOX10):c.1000A>C (p.Ile334Leu)	POLR2F, SOX10 (I334L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2875340	NM_006941.4(SOX10):c.998G>A (p.Trp333Ter)	POLR2F, SOX10 (W333*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1578517	NM_006941.4(SOX10):c.996C>G (p.Ala332=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1400594	NM_006941.4(SOX10):c.994G>A (p.Ala332Thr)	POLR2F, SOX10 (A332T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 705131	NM_006941.4(SOX10):c.993C>T (p.Ser331=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1664411	NM_006941.4(SOX10):c.984T>C (p.Ser328=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

<< First< Prev

Page of 5