GALNT9[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689110	NM_001122636.2(GALNT9):c.1216_1219del (p.Asp406fs)	GALNT9 (D406fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2643635	NM_001122636.2(GALNT9):c.1144A>T (p.Arg382Trp)	GALNT9 (R16W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3098244	NM_001122636.2(GALNT9):c.664C>T (p.Arg222Trp)	GALNT9 (R222W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312846	NM_001122636.2(GALNT9):c.553G>A (p.Glu185Lys)	GALNT9 (E185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048038	NM_001122636.2(GALNT9):c.420-59_437del	GALNT9	Deletion (splice acceptor variant)	GALNT9-related disorder	GLikely benign
Select item 2386639	NM_001122636.2(GALNT9):c.241C>A (p.Leu81Ile)	GALNT9 (L81I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357611	NM_001122636.2(GALNT9):c.211G>C (p.Glu71Gln)	GALNT9 (E71Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491613	NM_001122636.2(GALNT9):c.101C>T (p.Ser34Phe)	GALNT9 (S34F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480527	NM_001122636.2(GALNT9):c.80A>C (p.Tyr27Ser)	GALNT9 (Y27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance