4286[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ROBO1, ROBO2 +481 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic
Select item 144339	GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1	ARL6IP5, EBLN2 +142 more	Copy number loss	See cases	GPathogenic
Select item 151504	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3	ARL6IP5, CNTN3 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 154137	GRCh38/hg38 3p14.1-13(chr3:69428068-70977848)x3	FOXP1, FRMD4B +19 more	Copy number gain	See cases	GLikely benign
Select item 1294117	NC_000003.12:g.69739170A>G	LOC107988042, MITF	Single nucleotide variant	not provided	GBenign
Select item 1697576	NM_001354604.2(MITF):c.-29C>T	LOC107988042, MITF	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 505050	NM_001354604.2(MITF):c.60G>T (p.Glu20Asp)	LOC107988042, MITF (E20D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3047368	NM_001354604.2(MITF):c.64A>G (p.Lys22Glu)	LOC107988042, MITF (K22E)	Single nucleotide variant (missense variant +1 more)	MITF-related condition	GUncertain significance
Select item 1195048	NM_001354604.2(MITF):c.104+68C>G	MITF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197772	NM_001354604.2(MITF):c.104+244C>A	MITF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669675	NM_001354604.2(MITF):c.104+23992G>T	MITF	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1291113	NM_001354604.2(MITF):c.104+24051C>T	MITF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2653963	NM_001354604.2(MITF):c.104+24163C>T	MITF (S8L)	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 932038	NM_001354604.2(MITF):c.104+24188C>G	MITF (F16L)	Single nucleotide variant (missense variant +1 more)	Tietz syndrome	GUncertain significance
Select item 2628573	NM_001354604.2(MITF):c.104+24210A>G	MITF (R24G)	Single nucleotide variant (missense variant +1 more)	MITF-related condition	GUncertain significance
Select item 1284441	NM_001354604.2(MITF):c.104+24216T>C	MITF	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 228854	NM_001354604.2(MITF):c.104+24226G>A	MITF (C29Y)	Single nucleotide variant (missense variant +1 more)	MITF-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1678278	NM_001354604.2(MITF):c.104+24240del	MITF (S34fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2631055	NM_001354604.2(MITF):c.104+54808T>C	MITF (M16T)	Single nucleotide variant (missense variant +1 more)	MITF-related condition	GUncertain significance
Select item 227547	NM_001354604.2(MITF):c.105-12836C>T	MITF (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3048546	NM_001354604.2(MITF):c.105-12832T>C	MITF	Single nucleotide variant (synonymous variant +1 more)	MITF-related condition	GLikely benign
Select item 3048249	NM_001354604.2(MITF):c.105-12791A>G	MITF (Y18C)	Single nucleotide variant (missense variant +1 more)	MITF-related condition	GUncertain significance
Select item 505334	NM_001354604.2(MITF):c.105-12789C>T	MITF (L19F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1697577	NM_001354604.2(MITF):c.105-40T>C	MITF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2631029	NM_001354604.2(MITF):c.108T>G (p.Ser36Arg)	MITF (S11R +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	MITF-related condition	GUncertain significance
Select item 3055283	NM_001354604.2(MITF):c.111C>T (p.Ser37=)	MITF	Single nucleotide variant (5 prime UTR variant +1 more)	MITF-related condition	GLikely benign
Select item 929971	NM_001354604.2(MITF):c.114C>T (p.Ala38=)	MITF	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3051214	NM_001354604.2(MITF):c.141G>A (p.Pro47=)	MITF	Single nucleotide variant (5 prime UTR variant +1 more)	MITF-related condition	GLikely benign
Select item 3047190	NM_001354604.2(MITF):c.141G>T (p.Pro47=)	MITF	Single nucleotide variant (5 prime UTR variant +1 more)	MITF-related condition	GLikely benign
Select item 517169	NM_001354604.2(MITF):c.217C>T (p.Arg73Cys)	MITF (R73C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 678627	NM_001354604.2(MITF):c.246G>A (p.Ala82=)	MITF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3032510	NM_001354604.2(MITF):c.273C>T (p.Pro91=)	MITF	Single nucleotide variant (synonymous variant)	MITF-related condition	GLikely benign
Select item 805006	NM_001354604.2(MITF):c.316C>T (p.Leu106Phe)	MITF (L54F +4 more)	Single nucleotide variant (missense variant)	MITF-related condition +1 more	GConflicting classifications of pathogenicity
Select item 228855	NM_001354604.2(MITF):c.329C>T (p.Thr110Met)	MITF (T110M +4 more)	Single nucleotide variant (missense variant)	MITF-related condition +1 more	GUncertain significance
Select item 226727	NM_001354604.2(MITF):c.330G>A (p.Thr110=)	MITF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +3 more	GBenign
Select item 3030392	NM_001354604.2(MITF):c.339G>A (p.Pro113=)	MITF	Single nucleotide variant (synonymous variant)	MITF-related condition	GLikely benign
Select item 1697578	NM_001354604.2(MITF):c.345A>G (p.Glu115=)	MITF	Single nucleotide variant (synonymous variant)	MITF-related condition +1 more	GLikely benign
Select item 3037066	NM_001354604.2(MITF):c.354+7G>A	MITF	Single nucleotide variant (intron variant)	MITF-related condition	GLikely benign
Select item 679757	NM_001354604.2(MITF):c.354+143G>A	MITF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245479	NM_001354604.2(MITF):c.354+297A>G	MITF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249722	NM_001354604.2(MITF):c.354+327T>C	MITF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 146865	GRCh38/hg38 3p13(chr3:69914878-70489155)x1	LOC107988030, LOC107988038 +9 more	Copy number loss	See cases	GPathogenic
Select item 902025	NM_001354604.2(MITF):c.355-1219G>A	LOC107988030, MITF	Single nucleotide variant (5 prime UTR variant +1 more)	Tietz syndrome +1 more	GUncertain significance
Select item 228360	NM_198159.2(MITF):c.(?_355)-1203_*(78_?)del	LOC107988030, MITF	Deletion	Rare genetic deafness	GPathogenic
Select item 346493	NM_001354604.2(MITF):c.355-1135G>A	LOC107988030, MITF	Single nucleotide variant (5 prime UTR variant +1 more)	Tietz syndrome +3 more	GBenign/Likely benign
Select item 1200810	NM_001354604.2(MITF):c.355-1127C>T	LOC107988030, MITF	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 679027	NM_001354604.2(MITF):c.355-1113C>T	LOC107988030, MITF	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 3045068	NM_001354604.2(MITF):c.355-1103T>A	LOC107988030, MITF	Single nucleotide variant (5 prime UTR variant +1 more)	MITF-related condition	GLikely benign
Select item 981831	NM_000248.4(MITF):c.1A>G (p.Met1Val)	LOC107988030, MITF (M1V)	Single nucleotide variant (intron variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 2200851	NM_000248.4(MITF):c.3G>A (p.Met1Ile)	LOC107988030, MITF (M1I)	Single nucleotide variant (missense variant +2 more)	Tietz syndrome +2 more	GUncertain significance
Select item 2636830	NM_000248.4(MITF):c.7G>A (p.Glu3Lys)	MITF (E3K)	Single nucleotide variant (missense variant +1 more)	MITF-related condition	GUncertain significance
Select item 2921930	NM_000248.4(MITF):c.13dup (p.Leu5fs)	MITF (L5fs)	Duplication (intron variant +1 more)	Waardenburg syndrome type 2A +2 more	GUncertain significance
Select item 2936554	NM_000248.4(MITF):c.17A>G (p.Glu6Gly)	MITF (E6G)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2008854	NM_000248.4(MITF):c.19T>C (p.Tyr7His)	MITF (Y7H)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2943692	NM_000248.4(MITF):c.24T>A (p.Asn8Lys)	MITF (N8K)	Single nucleotide variant (missense variant +1 more)	Tietz syndrome +2 more	GUncertain significance
Select item 1722020	NM_000248.4(MITF):c.26A>T (p.His9Leu)	MITF (H9L)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2A +2 more	GUncertain significance
Select item 2631739	NM_000248.4(MITF):c.27C>G (p.His9Gln)	MITF (H9Q)	Single nucleotide variant (intron variant +1 more)	MITF-related condition	GUncertain significance
Select item 2951402	NM_000248.4(MITF):c.28T>A (p.Tyr10Asn)	MITF (Y10N)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2071751	NM_000248.4(MITF):c.29A>G (p.Tyr10Cys)	MITF (Y10C)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2921913	NM_000248.4(MITF):c.31C>T (p.Gln11Ter)	MITF (Q11*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 2A +2 more	GUncertain significance
Select item 2951403	NM_000248.4(MITF):c.33_33+6del	MITF	Deletion (intron variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 14270	NM_000248.4(MITF):c.33+1G>A	MITF	Single nucleotide variant (intron variant +1 more)	Waardenburg syndrome type 2A	GPathogenic
Select item 2020579	NM_000248.4(MITF):c.33+2T>C	MITF	Single nucleotide variant (intron variant +1 more)	Waardenburg syndrome type 2A +2 more	GUncertain significance
Select item 545639	NM_001354604.2(MITF):c.355-1062G>C	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2126707	NM_001354604.2(MITF):c.355-1057A>T	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GLikely benign
Select item 2953109	NM_001354604.2(MITF):c.355-1052G>A	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2936787	NM_001354604.2(MITF):c.355-1050C>T	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2133563	NM_001354604.2(MITF):c.355-1050C>A	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GLikely benign
Select item 2942013	NM_001354604.2(MITF):c.355-1049T>C	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2945216	NM_001354604.2(MITF):c.355-1048C>T	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GLikely benign
Select item 1270662	NM_001354604.2(MITF):c.355-857dup	MITF	Duplication (intron variant)	not provided	GBenign
Select item 677844	NM_001354604.2(MITF):c.355-829A>G	MITF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677773	NM_001354604.2(MITF):c.355-194A>C	MITF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2941666	NM_001354604.2(MITF):c.355-18C>T	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2944740	NM_001354604.2(MITF):c.355-15C>T	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GLikely benign
Select item 2941080	NM_001354604.2(MITF):c.355-10_355-6del	MITF	Deletion (intron variant)	Waardenburg syndrome type 2A +2 more	GLikely benign
Select item 228856	NM_001354604.2(MITF):c.355-8A>G	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +3 more	GConflicting classifications of pathogenicity
Select item 2941542	NM_001354604.2(MITF):c.355-7T>C	MITF	Single nucleotide variant (intron variant)	Waardenburg syndrome type 2A +2 more	GLikely benign
Select item 735088	NM_001354604.2(MITF):c.355-6G>A	MITF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2937479	NM_001354604.2(MITF):c.355-5T>C	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2946800	NM_001354604.2(MITF):c.364C>A (p.His122Asn)	MITF (H105N +5 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2922420	NM_001354604.2(MITF):c.367del (p.Leu123fs)	MITF (L123fs +5 more)	Deletion (frameshift variant)	Waardenburg syndrome type 2A +2 more	GPathogenic
Select item 226728	NM_001354604.2(MITF):c.366C>T (p.His122=)	MITF	Single nucleotide variant (synonymous variant)	Tietz syndrome +6 more	GBenign/Likely benign
Select item 1981416	NM_001354604.2(MITF):c.369C>T (p.Leu123=)	MITF	Single nucleotide variant (synonymous variant)	Waardenburg syndrome type 2A +2 more	GLikely benign
Select item 2297452	NM_001354604.2(MITF):c.370G>A (p.Glu124Lys)	MITF (E107K +5 more)	Single nucleotide variant (missense variant)	Tietz syndrome +4 more	GUncertain significance
Select item 1315063	NM_001354604.2(MITF):c.384G>A (p.Lys128=)	MITF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1526071	NM_001354604.2(MITF):c.387C>A (p.Tyr129Ter)	MITF (Y112* +5 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 2A	GLikely pathogenic
Select item 2118428	NM_001354604.2(MITF):c.394C>G (p.Gln132Glu)	MITF (Q116E +5 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 493364	NM_001354604.2(MITF):c.394C>A (p.Gln132Lys)	MITF (Q25K +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2127965	NM_001354604.2(MITF):c.395A>T (p.Gln132Leu)	MITF (Q132L +5 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 872077	NM_001354604.2(MITF):c.397C>T (p.Gln133Ter)	MITF (Q116* +5 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1712608	NM_001354604.2(MITF):c.406C>T (p.Arg136Trp)	MITF (R119W +5 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +3 more	GUncertain significance
Select item 1692272	NM_001354604.2(MITF):c.407G>A (p.Arg136Gln)	MITF (R119Q +5 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +3 more	GUncertain significance
Select item 1184722	NM_001354604.2(MITF):c.415G>A (p.Val139Ile)	MITF (V122I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 2930353	NM_001354604.2(MITF):c.422A>G (p.Gln141Arg)	MITF (Q140R +5 more)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2947585	NM_001354604.2(MITF):c.440T>G (p.Leu147Ter)	MITF (L130* +5 more)	Single nucleotide variant (nonsense +1 more)	Tietz syndrome +2 more	GPathogenic
Select item 1986398	NM_001354604.2(MITF):c.450A>T (p.Lys150Asn)	MITF (K134N +5 more)	Single nucleotide variant (missense variant +1 more)	MITF-related condition +3 more	GUncertain significance
Select item 1313718	NM_001354604.2(MITF):c.451C>T (p.His151Tyr)	MITF (H134Y +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2922288	NM_001354604.2(MITF):c.452A>G (p.His151Arg)	MITF (H99R +5 more)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2A +2 more	GUncertain significance

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