"Ambry Genetics"[submitter] AND "KCTD2"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2602340	NM_006356.3(ATP5PD):c.329C>T (p.Ala110Val)	ATP5PD, KCTD2 (A86V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131825	NM_006356.3(ATP5PD):c.257A>G (p.Tyr86Cys)	ATP5PD, KCTD2 (Y86C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131824	NM_006356.3(ATP5PD):c.235G>T (p.Val79Phe)	ATP5PD, KCTD2 (V79F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131823	NM_006356.3(ATP5PD):c.154A>G (p.Ile52Val)	ATP5PD, KCTD2 (I52V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131827	NM_006356.3(ATP5PD):c.73A>G (p.Lys25Glu)	ATP5PD, KCTD2 (K25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512226	NM_006356.3(ATP5PD):c.58A>G (p.Ile20Val)	ATP5PD, KCTD2 (I20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329386	NM_006356.3(ATP5PD):c.55A>G (p.Ile19Val)	ATP5PD, KCTD2 (I19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287840	NM_015353.3(KCTD2):c.7G>A (p.Glu3Lys)	KCTD2, LOC112533669 (E3K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287841	NM_015353.3(KCTD2):c.9A>C (p.Glu3Asp)	KCTD2, LOC112533669 (E3D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300203	NM_015353.3(KCTD2):c.40G>C (p.Gly14Arg)	KCTD2, LOC112533669 (G14R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331520	NM_015353.3(KCTD2):c.44G>A (p.Gly15Glu)	KCTD2, LOC112533669 (G15E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113642	NM_015353.3(KCTD2):c.50G>T (p.Gly17Val)	KCTD2, LOC112533669 (G17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620648	NM_015353.3(KCTD2):c.58G>T (p.Gly20Trp)	KCTD2, LOC112533669 (G20W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481651	NM_015353.3(KCTD2):c.58G>A (p.Gly20Arg)	KCTD2, LOC112533669 (G20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113643	NM_015353.3(KCTD2):c.77G>A (p.Gly26Asp)	KCTD2, LOC112533669 (G26D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393165	NM_015353.3(KCTD2):c.92C>T (p.Pro31Leu)	KCTD2 (P31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113641	NM_015353.3(KCTD2):c.122C>T (p.Pro41Leu)	KCTD2 (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287839	NM_015353.3(KCTD2):c.136C>T (p.Arg46Cys)	KCTD2 (R46C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364457	NM_015353.3(KCTD2):c.143C>T (p.Ala48Val)	KCTD2 (A48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411120	NM_015353.3(KCTD2):c.368G>T (p.Arg123Met)	KCTD2 (R123M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315168	NM_015353.3(KCTD2):c.389C>A (p.Pro130His)	KCTD2 (P130H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287838	NM_015353.3(KCTD2):c.758C>A (p.Ala253Glu)	KCTD2 (A253E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 22