ClinVar for MedGen (Select 349786) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954462	NM_001354604.2(MITF):c.1002A>G (p.Leu334=)	MITF	Single nucleotide variant (synonymous variant)	Waardenburg syndrome type 2A +2 more	GLikely benign
Select item 2954441	NM_001354604.2(MITF):c.1466C>G (p.Thr489Ser)	MITF (T320S +9 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 2A +2 more	GUncertain significance
Select item 2954145	NM_001354604.2(MITF):c.956-17G>T	MITF	Single nucleotide variant (intron variant)	Waardenburg syndrome type 2A +2 more	GLikely benign
Select item 2954081	NM_001354604.2(MITF):c.544A>C (p.Met182Leu)	MITF (M165L +5 more)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2A +2 more	GUncertain significance
Select item 2954027	NM_001354604.2(MITF):c.660_666+6del	MITF	Deletion (splice donor variant)	Waardenburg syndrome type 2A +2 more	GLikely pathogenic
Select item 2953955	NM_001354604.2(MITF):c.880+8C>T	MITF	Single nucleotide variant (intron variant)	Waardenburg syndrome type 2A +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 2951924	NM_001354604.2(MITF):c.1031+5G>A	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2951636	NM_001354604.2(MITF):c.763-19A>C	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2951616	NM_001354604.2(MITF):c.1398G>A (p.Glu466=)	MITF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2951538	NM_001354604.2(MITF):c.1253T>C (p.Val418Ala)	MITF (V305A +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +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 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 2951393	NM_001354604.2(MITF):c.1330T>C (p.Cys444Arg)	MITF (C275R +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2951164	NM_001354604.2(MITF):c.955+3A>T	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2951040	NM_001354604.2(MITF):c.583-4G>A	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2950358	NM_001354604.2(MITF):c.955+7T>G	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2949960	NM_001354604.2(MITF):c.1313A>G (p.His438Arg)	MITF (H269R +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2949959	NM_001354604.2(MITF):c.1036A>G (p.Met346Val)	MITF (M177V +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2949784	NM_001354604.2(MITF):c.1001T>C (p.Leu334Pro)	MITF (L276P +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2949636	NM_001354604.2(MITF):c.927G>A (p.Glu309=)	MITF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2949311	NM_001354604.2(MITF):c.1425A>G (p.Thr475=)	MITF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2949158	NM_001354604.2(MITF):c.762+1G>A	MITF	Single nucleotide variant (splice donor variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely pathogenic
Select item 2948847	NM_001354604.2(MITF):c.1463A>G (p.Asp488Gly)	MITF (D381G +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2948771	NM_001354604.2(MITF):c.1180-4A>G	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2948516	NM_001354604.2(MITF):c.511C>A (p.Pro171Thr)	MITF (P155T +5 more)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2948336	NM_001354604.2(MITF):c.550A>C (p.Met184Leu)	MITF (M168L +5 more)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2948169	NM_001354604.2(MITF):c.543C>T (p.Pro181=)	MITF	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2947873	NM_001354604.2(MITF):c.1198C>A (p.Arg400=)	MITF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2947777	NM_001354604.2(MITF):c.1192C>G (p.Gln398Glu)	MITF (Q229E +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2947768	NM_001354604.2(MITF):c.1451T>C (p.Ile484Thr)	MITF (I377T +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2947753	NM_001354604.2(MITF):c.583-16G>T	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2947672	NM_001354604.2(MITF):c.1180-15T>G	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
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 2947582	NM_001354604.2(MITF):c.1545C>A (p.Ser515Arg)	MITF (S346R +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2946910	NM_001354604.2(MITF):c.1409C>A (p.Ala470Asp)	MITF (A301D +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2946834	NM_001354604.2(MITF):c.1104G>A (p.Gln368=)	MITF	Single nucleotide variant (synonymous variant)	Tietz syndrome +2 more	GLikely benign
Select item 2946809	NM_001354604.2(MITF):c.627C>T (p.Cys209=)	MITF	Single nucleotide variant (synonymous variant)	Tietz syndrome +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 2946571	NM_001354604.2(MITF):c.598G>A (p.Glu200Lys)	MITF (E37K +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2946210	NM_001354604.2(MITF):c.1164G>C (p.Leu388Phe)	MITF (L219F +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2945652	NM_001354604.2(MITF):c.1180-7A>G	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +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 2945188	NM_001354604.2(MITF):c.788A>C (p.Asp263Ala)	MITF (D263A +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2945174	NM_001354604.2(MITF):c.656C>G (p.Ser219Cys)	MITF (S112C +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
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 2944494	NM_001354604.2(MITF):c.583-14T>A	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2944207	NM_001354604.2(MITF):c.1454T>C (p.Leu485Pro)	MITF (L463P +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2944084	NM_001354604.2(MITF):c.1442T>C (p.Leu481Pro)	MITF (L368P +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2944058	NM_001354604.2(MITF):c.1074G>C (p.Val358=)	MITF	Single nucleotide variant (synonymous variant)	Tietz syndrome +2 more	GLikely benign
Select item 2943987	NM_001354604.2(MITF):c.607A>G (p.Asn203Asp)	MITF (N40D +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +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 2943674	NM_001354604.2(MITF):c.1031+12C>A	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GLikely benign
Select item 2943594	NM_001354604.2(MITF):c.955+11T>C	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2943489	NM_001354604.2(MITF):c.1182A>T (p.Glu394Asp)	MITF (E225D +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2943395	NM_001354604.2(MITF):c.666+1G>A	MITF	Single nucleotide variant (splice donor variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely pathogenic
Select item 2943064	NM_001354604.2(MITF):c.1180-14T>C	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2942914	NM_001354604.2(MITF):c.880+6C>G	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2942310	NM_001354604.2(MITF):c.1099G>C (p.Glu367Gln)	MITF (E260Q +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
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 2942004	NM_001354604.2(MITF):c.764T>C (p.Leu255Ser)	MITF (L254S +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
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 2941566	NM_001354604.2(MITF):c.1511C>G (p.Ser504Cys)	MITF (S335C +9 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 2A +2 more	GUncertain significance
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 2941366	NM_001354604.2(MITF):c.1317T>C (p.His439=)	MITF	Single nucleotide variant (synonymous variant)	Waardenburg syndrome type 2A +2 more	GLikely benign
Select item 2941268	NM_001354604.2(MITF):c.1241C>A (p.Ser414Tyr)	MITF (S307Y +9 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 2A +2 more	GUncertain significance
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 2941060	NM_001354604.2(MITF):c.651A>C (p.Arg217=)	MITF	Single nucleotide variant (synonymous variant)	Waardenburg syndrome type 2A +2 more	GLikely benign
Select item 2940890	NM_001354604.2(MITF):c.667-6C>T	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +3 more	GLikely benign
Select item 2940791	NM_001354604.2(MITF):c.1032-7A>G	MITF	Single nucleotide variant (intron variant)	Waardenburg syndrome type 2A +2 more	GLikely benign
Select item 2940546	NM_001354604.2(MITF):c.1353G>T (p.Thr451=)	MITF	Single nucleotide variant (synonymous variant)	Waardenburg syndrome type 2A +2 more	GLikely benign
Select item 2940481	NM_001354604.2(MITF):c.880+7A>G	MITF	Single nucleotide variant (intron variant)	Waardenburg syndrome type 2A +2 more	GLikely benign
Select item 2940041	NM_001354604.2(MITF):c.1180-12C>T	MITF	Single nucleotide variant (intron variant)	Waardenburg syndrome type 2A +2 more	GLikely benign
Select item 2939777	NM_001354604.2(MITF):c.658T>C (p.Cys220Arg)	MITF (C168R +6 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 2A +2 more	GUncertain significance
Select item 2939768	NM_001354604.2(MITF):c.727G>A (p.Gly243Ser)	MITF (G191S +6 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 2A +2 more	GUncertain significance
Select item 2939722	NM_001354604.2(MITF):c.1108C>T (p.Arg370Cys)	MITF (R257C +9 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 2A +2 more	GUncertain significance
Select item 2939690	NM_001354604.2(MITF):c.583-16G>C	MITF	Single nucleotide variant (intron variant)	Waardenburg syndrome type 2A +2 more	GLikely benign
Select item 2939585	NM_001354604.2(MITF):c.1267A>G (p.Lys423Glu)	MITF (K254E +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2939395	NM_001354604.2(MITF):c.955+9G>C	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GLikely benign
Select item 2939207	NM_001354604.2(MITF):c.1180G>A (p.Glu394Lys)	MITF (E372K +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2939181	NM_001354604.2(MITF):c.1180-5T>C	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GLikely benign
Select item 2939179	NM_001354604.2(MITF):c.880+5A>G	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2939131	NM_001354604.2(MITF):c.762+13T>G	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GLikely benign
Select item 2938976	NM_001354604.2(MITF):c.956-6T>G	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GLikely benign
Select item 2938727	NM_001354604.2(MITF):c.762+4T>C	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2938621	NM_001354604.2(MITF):c.657C>T (p.Ser219=)	MITF	Single nucleotide variant (synonymous variant)	Tietz syndrome +2 more	GLikely benign
Select item 2938469	NM_001354604.2(MITF):c.624G>A (p.Glu208=)	MITF	Single nucleotide variant (synonymous variant)	Tietz syndrome +2 more	GLikely benign
Select item 2938445	NM_001354604.2(MITF):c.1210C>T (p.Leu404Phe)	MITF (L382F +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2938245	NM_001354604.2(MITF):c.518C>T (p.Pro173Leu)	MITF (P156L +5 more)	Single nucleotide variant (missense variant +1 more)	Tietz syndrome +2 more	GUncertain significance
Select item 2938197	NM_001354604.2(MITF):c.828C>A (p.Thr276=)	MITF	Single nucleotide variant (synonymous variant)	Tietz syndrome +2 more	GLikely benign
Select item 2938043	NM_001354604.2(MITF):c.776G>A (p.Gly259Glu)	MITF (G242E +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2938034	NM_001354604.2(MITF):c.495C>G (p.Gly165=)	MITF	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +3 more	GLikely benign
Select item 2937869	NM_001354604.2(MITF):c.1464C>T (p.Asp488=)	MITF	Single nucleotide variant (synonymous variant)	Tietz syndrome +2 more	GLikely benign
Select item 2937809	NM_001354604.2(MITF):c.862A>G (p.Ile288Val)	MITF (I271V +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2937793	NM_001354604.2(MITF):c.739C>T (p.Pro247Ser)	MITF (P231S +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2937576	NM_001354604.2(MITF):c.1542G>A (p.Arg514=)	MITF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2937538	NM_001354604.2(MITF):c.1551G>A (p.Met517Ile)	MITF (M517I +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
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 2937387	NM_001354604.2(MITF):c.1032-19T>C	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2937296	NM_001354604.2(MITF):c.1370T>C (p.Phe457Ser)	MITF (F399S +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance

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