Related gene-specific medical variations for Gene (Select 79712) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062632	GRCh37/hg19 2q22.3(chr2:144941525-145013748)x1	GTDC1	Copy number loss	not specified	GUncertain significance
Select item 2651392	NM_001376312.2(GTDC1):c.1308G>A (p.Pro436=)	GTDC1, LOC101928386	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2553240	NM_001376312.2(GTDC1):c.1178T>G (p.Leu393Trp)	GTDC1, LOC101928386 (L308W +11 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2370448	NM_001376312.2(GTDC1):c.1195T>C (p.Phe399Leu)	GTDC1, LOC101928386 (F367L +8 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2355311	NM_001376312.2(GTDC1):c.1199C>G (p.Pro400Arg)	GTDC1, LOC101928386 (P282R +11 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2334212	NM_001376312.2(GTDC1):c.1166G>C (p.Cys389Ser)	LOC101928386, GTDC1 (C237S +11 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2297712	NM_001376312.2(GTDC1):c.1202C>T (p.Ala401Val)	GTDC1, LOC101928386 (A450V +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 727232	NM_001376312.2(GTDC1):c.1308G>T (p.Pro436=)	GTDC1, LOC101928386	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 712902	NM_001376312.2(GTDC1):c.1307C>T (p.Pro436Leu)	GTDC1, LOC101928386 (P318L +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign