"Ambry Genetics"[submitter] AND "KLHDC9"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3288874	NM_152366.5(KLHDC9):c.16C>T (p.Pro6Ser)	KLHDC9, LOC129931749 (P6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538675	NM_152366.5(KLHDC9):c.56C>T (p.Pro19Leu)	KLHDC9, LOC129931749 (P19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523550	NM_152366.5(KLHDC9):c.86C>T (p.Ala29Val)	KLHDC9, LOC129931749 (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288876	NM_152366.5(KLHDC9):c.98G>A (p.Cys33Tyr)	KLHDC9, LOC129931749 (C33Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488588	NM_152366.5(KLHDC9):c.139C>G (p.Leu47Val)	KLHDC9, LOC129931749 (L47V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536472	NM_152366.5(KLHDC9):c.149G>A (p.Gly50Glu)	KLHDC9 (G50E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288877	NM_152366.5(KLHDC9):c.157G>A (p.Glu53Lys)	KLHDC9 (E53K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115438	NM_152366.5(KLHDC9):c.196G>C (p.Gly66Arg)	KLHDC9 (G66R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335445	NM_152366.5(KLHDC9):c.223G>T (p.Gly75Cys)	KLHDC9, LOC129931750 (G75C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115439	NM_152366.5(KLHDC9):c.232C>G (p.Pro78Ala)	KLHDC9, LOC129931750 (P78A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115441	NM_152366.5(KLHDC9):c.233C>T (p.Pro78Leu)	KLHDC9, LOC129931750 (P78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115440	NM_152366.5(KLHDC9):c.233C>A (p.Pro78Gln)	KLHDC9, LOC129931750 (P78Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288875	NM_152366.5(KLHDC9):c.235C>T (p.Arg79Cys)	KLHDC9, LOC129931750 (R79C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375943	NM_152366.5(KLHDC9):c.236G>T (p.Arg79Leu)	KLHDC9, LOC129931750 (R79L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115442	NM_152366.5(KLHDC9):c.238A>C (p.Ser80Arg)	KLHDC9, LOC129931750 (S80R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115443	NM_152366.5(KLHDC9):c.250G>A (p.Ala84Thr)	KLHDC9 (A84T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622511	NM_152366.5(KLHDC9):c.265G>C (p.Gly89Arg)	KLHDC9 (G89R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225026	NM_152366.5(KLHDC9):c.368C>A (p.Thr123Asn)	KLHDC9 (T123N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115444	NM_152366.5(KLHDC9):c.433C>G (p.Leu145Val)	KLHDC9 (L145V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115445	NM_152366.5(KLHDC9):c.439G>A (p.Val147Met)	KLHDC9 (V147M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115446	NM_152366.5(KLHDC9):c.484A>G (p.Ser162Gly)	KLHDC9 (S162G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480532	NM_152366.5(KLHDC9):c.508C>T (p.Pro170Ser)	KLHDC9 (P170S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624415	NM_152366.5(KLHDC9):c.562T>C (p.Ser188Pro)	KLHDC9 (S188P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115447	NM_152366.5(KLHDC9):c.694C>T (p.Pro232Ser)	KLHDC9 (T238I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294627	NM_152366.5(KLHDC9):c.707C>T (p.Pro236Leu)	KLHDC9 (P236L)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3115448	NM_152366.5(KLHDC9):c.744T>C (p.Ser248=)	KLHDC9 (W255R)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3115449	NM_152366.5(KLHDC9):c.801C>T (p.Val267=)	KLHDC9 (R274W)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2558525	NM_152366.5(KLHDC9):c.920G>T (p.Cys307Phe)	KLHDC9 (C307F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2398742	NM_152366.5(KLHDC9):c.929G>A (p.Arg310His)	KLHDC9 (R310H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2544005	NM_152366.5(KLHDC9):c.940C>T (p.Arg314Cys)	KLHDC9 (R314C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2526948	NM_152366.5(KLHDC9):c.952C>T (p.Arg318Cys)	KLHDC9 (R318C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3115450	NM_152366.5(KLHDC9):c.953G>A (p.Arg318His)	KLHDC9 (R318H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2286937	NM_152366.5(KLHDC9):c.959G>A (p.Cys320Tyr)	KLHDC9 (C320Y)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3115451	NM_152366.5(KLHDC9):c.992G>A (p.Gly331Asp)	KLHDC9 (G331D)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3115452	NM_152366.5(KLHDC9):c.996T>G (p.Phe332Leu)	KLHDC9 (F332L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance

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Items: 35