"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 228854	NM_001354604.2(MITF):c.104+24226G>A	MITF (C29Y)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 505334	NM_001354604.2(MITF):c.105-12789C>T	MITF (L19F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 228855	NM_001354604.2(MITF):c.329C>T (p.Thr110Met)	MITF (T110M +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 226727	NM_001354604.2(MITF):c.330G>A (p.Thr110=)	MITF	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 228360	NM_198159.2(MITF):c.(?_355)-1203_*(78_?)del	LOC107988030, MITF	Deletion	Rare genetic deafness	GPathogenic
Select item 228856	NM_001354604.2(MITF):c.355-8A>G	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +3 more	GConflicting classifications of pathogenicity
Select item 226728	NM_001354604.2(MITF):c.366C>T (p.His122=)	MITF	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
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 666857	NM_001354604.2(MITF):c.452A>C (p.His151Pro)	MITF (H135P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 666713	NM_001354604.2(MITF):c.537C>T (p.Asn179=)	MITF	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +4 more	GConflicting classifications of pathogenicity
Select item 666856	NM_001354604.2(MITF):c.590A>G (p.Tyr197Cys)	MITF (Y145C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 227546	NM_001354604.2(MITF):c.623A>G (p.Glu208Gly)	MITF (E101G +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +4 more	GLikely benign
Select item 666859	NM_001354604.2(MITF):c.639C>G (p.Asn213Lys)	MITF (N106K +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +4 more	GUncertain significance
Select item 504813	NM_001354604.2(MITF):c.666+5T>C	MITF	Single nucleotide variant (intron variant)	not specified +5 more	GUncertain significance
Select item 504772	NM_001354604.2(MITF):c.666+15G>C	MITF	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 505225	NM_001354604.2(MITF):c.667-7C>T	MITF	Single nucleotide variant (intron variant)	not specified +5 more	GLikely benign
Select item 228857	NM_001354604.2(MITF):c.667-3C>T	MITF	Single nucleotide variant (intron variant)	not provided +4 more	GLikely benign
Select item 228364	NM_001354604.2(MITF):c.704C>G (p.Ser235Ter)	MITF (S128* +6 more)	Single nucleotide variant (nonsense)	Rare genetic deafness	GPathogenic
Select item 505620	NM_001354604.2(MITF):c.773_785dup (p.Asp263fs)	MITF (D211fs +6 more)	Duplication (frameshift variant)	Rare genetic deafness	GPathogenic
Select item 226729	NM_001354604.2(MITF):c.880+9C>G	MITF	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 228853	NM_001354604.2(MITF):c.881-9C>G	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +6 more	GUncertain significance
Select item 488962	NM_001354604.2(MITF):c.881-7T>A	MITF	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 228361	NM_198159.2(MITF):c.(?_938)-102_*(78_?)del	MITF	Deletion	Rare genetic deafness	GPathogenic
Select item 14272	NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del)	MITF (R217del +9 more)	Microsatellite (inframe_deletion)	not provided +3 more	GPathogenic
Select item 505101	NM_001354604.2(MITF):c.1040G>A (p.Arg347His)	MITF (R240H +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +4 more	GUncertain significance
Select item 228362	NM_001354604.2(MITF):c.1043G>A (p.Trp348Ter)	MITF (W241* +9 more)	Single nucleotide variant (nonsense)	Rare genetic deafness	GPathogenic
Select item 504773	NM_001354604.2(MITF):c.1050G>A (p.Lys350=)	MITF	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 547535	NM_001354604.2(MITF):c.1072G>A (p.Val358Met)	MITF (V251M +9 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 2A +1 more	GUncertain significance
Select item 666855	NM_001354604.2(MITF):c.1108C>G (p.Arg370Gly)	MITF (R201G +9 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 228363	NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter)	MITF (R270* +9 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 666714	NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr)	MITF (A215T +9 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 517197	NM_001354604.2(MITF):c.1179+4C>T	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +4 more	GConflicting classifications of pathogenicity
Select item 227545	NM_001354604.2(MITF):c.1182A>G (p.Glu394=)	MITF	Single nucleotide variant (synonymous variant)	Tietz syndrome +4 more	GBenign/Likely benign
Select item 506003	NM_001354604.2(MITF):c.1202C>T (p.Ala401Val)	MITF (A294V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 29792	NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)	MITF (E318K +9 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic; risk factor
Select item 346499	NM_001354604.2(MITF):c.1280T>C (p.Val427Ala)	MITF (V320A +9 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 2A +5 more	GBenign/Likely benign
Select item 226725	NM_001354604.2(MITF):c.1381C>A (p.Leu461Ile)	MITF (L354I +9 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 667264	NM_001354604.2(MITF):c.1412A>T (p.Tyr471Phe)	MITF (Y302F +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +5 more	GConflicting classifications of pathogenicity
Select item 517270	NM_001354604.2(MITF):c.1476C>T (p.Pro492=)	MITF	Single nucleotide variant (synonymous variant)	Tietz syndrome +3 more	GLikely benign
Select item 226726	NM_001354604.2(MITF):c.1566G>A (p.Thr522=)	MITF	Single nucleotide variant (synonymous variant)	Waardenburg syndrome type 2A +4 more	GBenign

ClinVar

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Items: 44