KLHL31[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 147999	GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4	CILK1, EFHC1 +119 more	Copy number gain	See cases	GPathogenic
Select item 1809510	GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2	LINC01564, LINC03001 +88 more	Copy number loss	Orofacial cleft	GUncertain significance
Select item 2214068	NM_001003760.5(KLHL31):c.1822T>C (p.Ser608Pro)	KLHL31 (S608P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115664	NM_001003760.5(KLHL31):c.1795G>A (p.Glu599Lys)	KLHL31 (E599K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288986	NM_001003760.5(KLHL31):c.1709T>C (p.Val570Ala)	KLHL31 (V570A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115663	NM_001003760.5(KLHL31):c.1696C>T (p.Arg566Cys)	KLHL31, LOC129996651 (R566C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235141	NM_001003760.5(KLHL31):c.1625C>A (p.Thr542Asn)	KLHL31 (T542N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115662	NM_001003760.5(KLHL31):c.1583A>G (p.Glu528Gly)	KLHL31, LOC129996652 (E528G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115660	NM_001003760.5(KLHL31):c.1460A>T (p.Asp487Val)	KLHL31, LOC129996652 (D487V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358193	NM_001003760.5(KLHL31):c.1432G>T (p.Ala478Ser)	KLHL31, LOC129996652 (A478S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255143	NM_001003760.5(KLHL31):c.1420T>C (p.Tyr474His)	KLHL31, LOC129996652 (Y474H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288989	NM_001003760.5(KLHL31):c.1385C>T (p.Ala462Val)	KLHL31 (A462V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278529	NM_001003760.5(KLHL31):c.1322C>G (p.Pro441Arg)	KLHL31 (P441R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313282	NM_001003760.5(KLHL31):c.1282A>G (p.Asn428Asp)	KLHL31 (N428D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589895	NM_001003760.5(KLHL31):c.1245C>A (p.Ser415Arg)	KLHL31 (S415R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509919	NM_001003760.5(KLHL31):c.1111G>A (p.Gly371Ser)	KLHL31 (G371S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301918	NM_001003760.5(KLHL31):c.970C>T (p.Arg324Cys)	KLHL31 (R324C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288987	NM_001003760.5(KLHL31):c.955G>A (p.Val319Ile)	KLHL31 (V319I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325242	NM_001003760.5(KLHL31):c.944G>C (p.Cys315Ser)	KLHL31 (C315S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411465	NM_001003760.5(KLHL31):c.923G>A (p.Arg308Gln)	KLHL31 (R308Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115670	NM_001003760.5(KLHL31):c.874A>G (p.Met292Val)	KLHL31 (M292V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616526	NM_001003760.5(KLHL31):c.871G>A (p.Ala291Thr)	KLHL31 (A291T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288990	NM_001003760.5(KLHL31):c.865G>A (p.Val289Ile)	KLHL31 (V289I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115669	NM_001003760.5(KLHL31):c.728T>G (p.Phe243Cys)	KLHL31 (F243C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115668	NM_001003760.5(KLHL31):c.700T>C (p.Phe234Leu)	KLHL31 (F234L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248159	NM_001003760.5(KLHL31):c.666T>G (p.Asp222Glu)	KLHL31 (D222E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288988	NM_001003760.5(KLHL31):c.511A>G (p.Asn171Asp)	KLHL31 (N171D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288991	NM_001003760.5(KLHL31):c.478A>C (p.Ser160Arg)	KLHL31 (S160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483266	NM_001003760.5(KLHL31):c.367A>G (p.Thr123Ala)	KLHL31 (T123A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467643	NM_001003760.5(KLHL31):c.346A>G (p.Ile116Val)	KLHL31 (I116V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115666	NM_001003760.5(KLHL31):c.317C>T (p.Pro106Leu)	KLHL31 (P106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373828	NM_001003760.5(KLHL31):c.299A>G (p.Asn100Ser)	KLHL31 (N100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622746	NM_001003760.5(KLHL31):c.247T>C (p.Ser83Pro)	KLHL31 (S83P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519773	NM_001003760.5(KLHL31):c.242C>G (p.Thr81Ser)	KLHL31 (T81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115665	NM_001003760.5(KLHL31):c.200G>A (p.Arg67Gln)	KLHL31 (R67Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115661	NM_001003760.5(KLHL31):c.151A>G (p.Thr51Ala)	KLHL31 (T51A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459838	NM_001003760.5(KLHL31):c.87A>T (p.Lys29Asn)	KLHL31 (K29N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115667	NM_001003760.5(KLHL31):c.49G>A (p.Glu17Lys)	KLHL31 (E17K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115658	NM_001003760.5(KLHL31):c.11A>G (p.Lys4Arg)	KLHL31 (K4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 979547	GRCh37/hg19 6p12.2-12.1(chr6:52657712-53622715)x3	CILK1, ELOVL5 +9 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 48