"Ambry Genetics"[submitter] AND "KLHDC7B"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2295459	NM_138433.5(KLHDC7B):c.1945T>C (p.Phe649Leu)	KLHDC7B (F649L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288867	NM_138433.5(KLHDC7B):c.1978C>T (p.Pro660Ser)	KLHDC7B (P660S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337066	NM_138433.5(KLHDC7B):c.1985C>T (p.Ala662Val)	KLHDC7B (A662V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266387	NM_138433.5(KLHDC7B):c.2069T>C (p.Ile690Thr)	KLHDC7B (I690T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350989	NM_138433.5(KLHDC7B):c.2070A>G (p.Ile690Met)	KLHDC7B (I690M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2604500	NM_138433.5(KLHDC7B):c.2131A>T (p.Thr711Ser)	KLHDC7B (T711S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115420	NM_138433.5(KLHDC7B):c.2213A>C (p.Gln738Pro)	KLHDC7B, LOC130067876 (Q738P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233219	NM_138433.5(KLHDC7B):c.2221A>T (p.Met741Leu)	KLHDC7B, LOC130067876 (M741L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115421	NM_138433.5(KLHDC7B):c.2321G>T (p.Arg774Leu)	KLHDC7B, LOC130067876 (R774L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115422	NM_138433.5(KLHDC7B):c.2410G>A (p.Gly804Ser)	KLHDC7B, LOC130067876 (G804S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411532	NM_138433.5(KLHDC7B):c.2414G>A (p.Ser805Asn)	KLHDC7B, LOC130067876 (S805N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115423	NM_138433.5(KLHDC7B):c.2422G>A (p.Gly808Ser)	KLHDC7B, LOC130067876 (G808S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321935	NM_138433.5(KLHDC7B):c.2447A>C (p.Lys816Thr)	KLHDC7B, LOC130067876 (K816T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397872	NM_138433.5(KLHDC7B):c.2466G>C (p.Lys822Asn)	KLHDC7B, LOC130067876 (K822N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115424	NM_138433.5(KLHDC7B):c.2467C>T (p.Leu823Phe)	KLHDC7B, LOC130067876 (L823F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525613	NM_138433.5(KLHDC7B):c.2495G>A (p.Gly832Asp)	KLHDC7B, LOC130067876 (G832D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596050	NM_138433.5(KLHDC7B):c.2500G>A (p.Gly834Arg)	KLHDC7B, LOC130067876 (G834R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359715	NM_138433.5(KLHDC7B):c.2504T>G (p.Val835Gly)	KLHDC7B, LOC130067876 (V835G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348182	NM_138433.5(KLHDC7B):c.2506G>A (p.Val836Met)	KLHDC7B, LOC130067876 (V836M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361653	NM_138433.5(KLHDC7B):c.2507T>G (p.Val836Gly)	LOC130067876, KLHDC7B (V836G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115425	NM_138433.5(KLHDC7B):c.2513G>A (p.Gly838Glu)	KLHDC7B, LOC130067876 (G838E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404676	NM_138433.5(KLHDC7B):c.2519G>A (p.Arg840Gln)	KLHDC7B, LOC130067876 (R840Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115426	NM_138433.5(KLHDC7B):c.2653G>C (p.Ala885Pro)	KLHDC7B (A885P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115427	NM_138433.5(KLHDC7B):c.2731C>T (p.Arg911Cys)	KLHDC7B, LOC130067877 (R911C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469895	NM_138433.5(KLHDC7B):c.2882C>T (p.Ala961Val)	KLHDC7B (A961V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392467	NM_138433.5(KLHDC7B):c.2965G>A (p.Gly989Ser)	KLHDC7B (G989S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342819	NM_138433.5(KLHDC7B):c.3014G>T (p.Gly1005Val)	KLHDC7B (G1005V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321934	NM_138433.5(KLHDC7B):c.3061C>G (p.Pro1021Ala)	KLHDC7B (P1021A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115415	NM_138433.5(KLHDC7B):c.3154G>A (p.Gly1052Ser)	KLHDC7B (G1052S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291436	NM_138433.5(KLHDC7B):c.3160G>A (p.Glu1054Lys)	KLHDC7B (E1054K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362856	NM_138433.5(KLHDC7B):c.3229G>A (p.Ala1077Thr)	KLHDC7B (A1077T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516114	NM_138433.5(KLHDC7B):c.3328G>A (p.Val1110Met)	KLHDC7B (V1110M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243656	NM_138433.5(KLHDC7B):c.3334G>A (p.Asp1112Asn)	KLHDC7B (D1112N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115416	NM_138433.5(KLHDC7B):c.3338C>T (p.Ala1113Val)	KLHDC7B (A1113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480912	NM_138433.5(KLHDC7B):c.3352C>G (p.Pro1118Ala)	KLHDC7B (P1118A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288866	NM_138433.5(KLHDC7B):c.3442G>A (p.Ala1148Thr)	KLHDC7B (A1148T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603585	NM_138433.5(KLHDC7B):c.3451C>T (p.Arg1151Cys)	KLHDC7B (R1151C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115417	NM_138433.5(KLHDC7B):c.3460A>C (p.Thr1154Pro)	KLHDC7B (T1154P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462951	NM_138433.5(KLHDC7B):c.3511G>A (p.Ala1171Thr)	KLHDC7B (A1171T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2289068	NM_138433.5(KLHDC7B):c.3602A>G (p.Gln1201Arg)	KLHDC7B (Q1201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115418	NM_138433.5(KLHDC7B):c.3616G>A (p.Glu1206Lys)	KLHDC7B (E1206K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288868	NM_138433.5(KLHDC7B):c.3647G>A (p.Gly1216Glu)	KLHDC7B (G1216E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310690	NM_138433.5(KLHDC7B):c.3670A>C (p.Thr1224Pro)	KLHDC7B (T1224P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115419	NM_138433.5(KLHDC7B):c.3689G>A (p.Arg1230Gln)	KLHDC7B (R1230Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 44