ClinVar for Gene (Select 6663) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239085	NM_006941.4(SOX10):c.-28GGC[7]	POLR2F, SOX10	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3238799	NM_006941.4(SOX10):c.570C>G (p.Cys190Trp)	POLR2F, SOX10 (C190W)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2E	GUncertain significance
Select item 3167699	NM_006941.4(SOX10):c.971T>C (p.Leu324Pro)	POLR2F, SOX10 (L324P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3167697	NM_006941.4(SOX10):c.271C>T (p.Pro91Ser)	POLR2F, SOX10 (P91S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068654	NM_006941.4(SOX10):c.518A>G (p.Tyr173Cys)	POLR2F, SOX10 (Y173C)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 4C	GUncertain significance
Select item 3065488	NM_006941.4(SOX10):c.389A>G (p.His130Arg)	POLR2F, SOX10 (H130R)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2E	GUncertain significance
Select item 3056703	NM_006941.4(SOX10):c.543del (p.Lys182fs)	POLR2F, SOX10 (K182fs)	Deletion (frameshift variant +1 more)	SOX10-related disorder	GLikely pathogenic
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 3032652	NM_006941.4(SOX10):c.735G>A (p.Pro245=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	SOX10-related disorder	GLikely benign
Select item 3030613	NM_006941.4(SOX10):c.13C>G (p.Gln5Glu)	POLR2F, SOX10 (Q5E)	Single nucleotide variant (missense variant +1 more)	SOX10-related disorder	GUncertain significance
Select item 3029427	NM_006941.4(SOX10):c.882G>A (p.Val294=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	SOX10-related disorder	GLikely benign
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 3024094	NM_006941.4(SOX10):c.376_377insG (p.Tyr126Ter)	POLR2F, SOX10 (Y126*)	Insertion (nonsense +1 more)	Waardenburg syndrome type 4C	GPathogenic
Select item 3014294	NM_006941.4(SOX10):c.534G>T (p.Arg178=)	POLR2F, SOX10	Single nucleotide variant (synonymous 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 2959213	NM_006941.4(SOX10):c.982A>G (p.Ser328Gly)	POLR2F, SOX10 (S328G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2884921	NM_006941.4(SOX10):c.813C>T (p.Ile271=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 2860375	NM_006941.4(SOX10):c.28G>A (p.Val10Met)	POLR2F, SOX10 (V10M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2851250	NM_006941.4(SOX10):c.1272del (p.Phe425fs)	POLR2F, SOX10 (F425fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2836702	NM_006941.4(SOX10):c.328G>A (p.Ala110Thr)	POLR2F, SOX10 (A110T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2835363	NM_006941.4(SOX10):c.562_588dup (p.Glu196_Gln197insAlaGluCysProGlyGlyGluAlaGlu)	POLR2F, SOX10	Duplication (inframe_insertion +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 2791751	NM_006941.4(SOX10):c.452G>A (p.Arg151His)	POLR2F, SOX10 (R151H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2785194	NM_006941.4(SOX10):c.880G>A (p.Val294Met)	POLR2F, SOX10 (V294M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2780689	NM_006941.4(SOX10):c.372C>A (p.Asp124Glu)	POLR2F, SOX10 (D124E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2771372	NM_006941.4(SOX10):c.21_42dup (p.Val15fs)	POLR2F, SOX10 (V15fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2754706	NM_006941.4(SOX10):c.488del (p.Gln163fs)	POLR2F, SOX10 (Q163fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 2748832	NM_006941.4(SOX10):c.1209dup (p.Asp404Ter)	POLR2F, SOX10 (D404*)	Duplication (nonsense +1 more)	not provided	GUncertain significance
Select item 2737041	NM_006941.4(SOX10):c.506C>T (p.Pro169Leu)	POLR2F, SOX10 (P169L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2729565	NM_006941.4(SOX10):c.102C>T (p.Asp34=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2723246	NM_006941.4(SOX10):c.429-6C>A	POLR2F, SOX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2722401	NM_006941.4(SOX10):c.102CGG[7] (p.Gly39_Ser40insGlyGly)	POLR2F, SOX10	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2715310	NM_006941.4(SOX10):c.162C>T (p.Val54=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2700103	NM_006941.4(SOX10):c.1173dup (p.Phe392fs)	POLR2F, SOX10 (F392fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2693763	NM_006941.4(SOX10):c.356G>A (p.Arg119His)	POLR2F, SOX10 (R119H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2683575	NM_006941.4(SOX10):c.932G>A (p.Ser311Asn)	POLR2F, SOX10 (S311N)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2664339	NM_006941.4(SOX10):c.512A>C (p.Tyr171Ser)	POLR2F, SOX10 (Y171S)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 2663768	NM_006941.4(SOX10):c.341G>C (p.Trp114Ser)	POLR2F, SOX10 (W114S)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 2662989	NM_006941.4(SOX10):c.734C>T (p.Pro245Leu)	POLR2F, SOX10 (P245L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2653132	NM_006941.4(SOX10):c.189G>A (p.Ala63=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653131	NM_006941.4(SOX10):c.429-3C>A	POLR2F, SOX10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2653130	NM_006941.4(SOX10):c.684C>T (p.Pro228=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653129	NM_006941.4(SOX10):c.697+389C>T	POLR2F, SOX10	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 2637901	NM_006941.4(SOX10):c.400C>T (p.Leu134Phe)	POLR2F, SOX10 (L134F)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome	GLikely pathogenic
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 2637156	NM_006941.4(SOX10):c.431T>C (p.Leu144Pro)	POLR2F, SOX10 (L144P)	Single nucleotide variant (missense variant +1 more)	SOX10-related disorder	GUncertain significance
Select item 2636900	NM_006941.4(SOX10):c.10dup (p.Glu4fs)	POLR2F, SOX10 (E4fs)	Duplication (frameshift variant +1 more)	SOX10-related disorder	GLikely pathogenic
Select item 2633950	NM_006941.4(SOX10):c.442dup (p.Ser148fs)	POLR2F, SOX10 (S148fs)	Duplication (frameshift variant +1 more)	SOX10-related disorder	GLikely pathogenic
Select item 2633050	NM_006941.4(SOX10):c.536_566dup (p.Cys190fs)	POLR2F, SOX10 (C190fs)	Duplication (frameshift variant +1 more)	SOX10-related disorder	GLikely pathogenic
Select item 2630501	NM_006941.4(SOX10):c.231_234dup (p.Val79fs)	POLR2F, SOX10 (V79fs)	Duplication (frameshift variant +1 more)	SOX10-related disorder	GLikely pathogenic
Select item 2608615	NM_006941.4(SOX10):c.112G>A (p.Gly38Ser)	POLR2F, SOX10 (G38S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2584980	NM_006941.4(SOX10):c.576del (p.Glu194fs)	POLR2F, SOX10 (E194fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 4C	GUncertain significance
Select item 2573061	NM_006941.4(SOX10):c.953dup (p.Tyr318Ter)	POLR2F, SOX10 (Y318*)	Duplication (frameshift variant +2 more)	Waardenburg syndrome type 2E	GLikely pathogenic
Select item 2572783	NM_006941.4(SOX10):c.559G>C (p.Glu187Gln)	POLR2F, SOX10 (E187Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2572705	NM_006941.4(SOX10):c.671C>T (p.Ser224Leu)	POLR2F, SOX10 (S224L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2502122	NM_006941.4(SOX10):c.40C>G (p.Pro14Ala)	POLR2F, SOX10 (P14A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2499352	NM_006941.4(SOX10):c.752C>T (p.Ser251Leu)	POLR2F, SOX10 (S251L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2479335	NM_006941.4(SOX10):c.250G>A (p.Asp84Asn)	POLR2F, SOX10 (D84N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2446222	NM_006941.4(SOX10):c.500A>G (p.Asp167Gly)	POLR2F, SOX10 (D167G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2445676	NM_006941.4(SOX10):c.383dup (p.His128fs)	POLR2F, SOX10 (H128fs)	Duplication (frameshift variant +1 more)	Deafness with anatomical inner ear anomalies	GPathogenic
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 2444323	NM_006941.4(SOX10):c.356_357del (p.Arg119fs)	POLR2F, SOX10 (R119fs)	Microsatellite (frameshift variant +1 more)	Waardenburg syndrome type 2E	GLikely pathogenic
Select item 2442776	NM_006941.4(SOX10):c.84G>T (p.Ala28=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2441943	NM_006941.4(SOX10):c.671C>A (p.Ser224Ter)	POLR2F, SOX10 (S224*)	Single nucleotide variant (nonsense +1 more)	PCWH syndrome	GPathogenic
Select item 2436253	NM_006941.4(SOX10):c.327C>A (p.Asn109Lys)	POLR2F, SOX10 (N109K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2431024	NM_006941.4(SOX10):c.380C>T (p.Pro127Leu)	POLR2F, SOX10 (P127L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2430605	NM_006941.4(SOX10):c.457T>C (p.Phe153Leu)	POLR2F, SOX10 (F153L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	H1-0, IFT27 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2423540	NC_000022.10:g.(?_38097373)_(39306081_?)del	ANKRD54, BAIAP2L2 +29 more	Deletion	not provided	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2328645	NM_006941.4(SOX10):c.386T>A (p.Leu129Gln)	POLR2F, SOX10 (L129Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307320	NM_006941.4(SOX10):c.633C>G (p.His211Gln)	POLR2F, SOX10 (H211Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235280	NM_006941.4(SOX10):c.932G>C (p.Ser311Thr)	POLR2F, SOX10 (S311T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229966	NM_006941.4(SOX10):c.797G>A (p.Gly266Asp)	POLR2F, SOX10 (G266D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 2195342	NM_006941.4(SOX10):c.949G>A (p.Gly317Ser)	POLR2F, SOX10 (G317S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2181964	NM_006941.4(SOX10):c.528G>A (p.Arg176=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	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 2155392	NM_006941.4(SOX10):c.820G>A (p.Gly274Ser)	POLR2F, SOX10 (G274S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2152217	NM_006941.4(SOX10):c.106G>A (p.Gly36Ser)	POLR2F, SOX10 (G36S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2138446	NM_006941.4(SOX10):c.316C>T (p.Arg106Trp)	POLR2F, SOX10 (R106W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2127667	NM_006941.4(SOX10):c.294C>G (p.Ser98Arg)	POLR2F, SOX10 (S98R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2127174	NM_006941.4(SOX10):c.903del (p.Pro302fs)	POLR2F, SOX10 (P302fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 2098014	NM_006941.4(SOX10):c.141G>A (p.Gly47=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2097686	NM_006941.4(SOX10):c.207C>A (p.Pro69=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2082063	NM_006941.4(SOX10):c.586G>C (p.Glu196Gln)	POLR2F, SOX10 (E196Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2081733	NM_006941.4(SOX10):c.698-29CT[5]	POLR2F, SOX10	Microsatellite (intron variant)	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 2058894	NM_006941.4(SOX10):c.559G>A (p.Glu187Lys)	POLR2F, SOX10 (E187K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2056018	NM_006941.4(SOX10):c.51G>A (p.Ser17=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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