Related gene-specific medical variations for Gene (Select 1761) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245367	NC_000009.11:g.(?_916743)_(968139_?)dup	DMRT1	Duplication	not provided	GUncertain significance
Select item 3083112	NM_021951.3(DMRT1):c.594G>C (p.Glu198Asp)	DMRT1, LOC130001446 (E198D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2985508	NM_021951.3(DMRT1):c.717T>C (p.Ser239=)	DMRT1, LOC130001446	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845923	NM_021951.3(DMRT1):c.762G>A (p.Lys254=)	DMRT1, LOC130001446	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2559157	NM_021951.3(DMRT1):c.602C>T (p.Pro201Leu)	DMRT1, LOC130001446 (P201L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291072	NM_021951.3(DMRT1):c.793G>A (p.Val265Met)	DMRT1, LOC130001446 (V107M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2246799	NM_021951.3(DMRT1):c.705G>C (p.Leu235Phe)	DMRT1, LOC130001446 (L77F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231635	NM_021951.3(DMRT1):c.658C>G (p.Pro220Ala)	DMRT1, LOC130001446 (P62A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209584	NM_021951.3(DMRT1):c.685C>A (p.Pro229Thr)	DMRT1, LOC130001446 (P229T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1911325	NM_021951.3(DMRT1):c.777C>T (p.Gly259=)	DMRT1, LOC130001446	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1676594	NM_021951.3(DMRT1):c.791A>T (p.Tyr264Phe)	DMRT1 (Y106F +1 more)	Single nucleotide variant	See cases	GUncertain significance
Select item 1535276	NM_021951.3(DMRT1):c.753C>T (p.Ser251=)	DMRT1, LOC130001446	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1508828	NM_021951.3(DMRT1):c.736A>G (p.Asn246Asp)	DMRT1, LOC130001446 (N246D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1340154	GRCh37/hg19 9p24.3(chr9:923562-953819)x1	DMRT1	Copy number loss	not provided	GUncertain significance
Select item 1271275	NM_021951.3(DMRT1):c.822+29C>A	DMRT1, LOC130001446	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263058	NM_021951.3(DMRT1):c.663T>C (p.Tyr221=)	DMRT1, LOC130001446	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786903	NM_021951.3(DMRT1):c.774G>C (p.Arg258=)	DMRT1, LOC130001446	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771730	NM_021951.3(DMRT1):c.783C>G (p.Pro261=)	DMRT1, LOC130001446	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713511	NM_021951.3(DMRT1):c.783C>T (p.Pro261=)	DMRT1, LOC130001446	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 243009	NM_021951.3(DMRT1):c.671A>G (p.Asn224Ser)	DMRT1, LOC130001446 (N224S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 20