ClinVar for Gene (Select 55175) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3288890	NM_018143.3(KLHL11):c.224C>T (p.Ser75Phe)	KLHL11 (S75F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288888	NM_018143.3(KLHL11):c.280T>C (p.Cys94Arg)	KLHL11 (C94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288887	NM_018143.3(KLHL11):c.1465A>G (p.Lys489Glu)	KLHL11 (K489E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3115472	NM_018143.3(KLHL11):c.560G>A (p.Arg187His)	KLHL11 (R187H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115471	NM_018143.3(KLHL11):c.2083G>A (p.Ala695Thr)	KLHL11 (A695T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115470	NM_018143.3(KLHL11):c.2037G>A (p.Met679Ile)	KLHL11 (M679I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115469	NM_018143.3(KLHL11):c.1981A>T (p.Ile661Phe)	KLHL11 (I661F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115468	NM_018143.3(KLHL11):c.1268T>C (p.Val423Ala)	KLHL11 (V423A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063506	GRCh37/hg19 17q21.2(chr17:39705863-40358580)x3	ACLY, CNP +25 more	Copy number gain	not specified	GUncertain significance
Select item 2921081	NM_018143.3(KLHL11):c.1976T>C (p.Val659Ala)	KLHL11 (V659A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647776	NM_018143.3(KLHL11):c.1947A>G (p.Gln649=)	KLHL11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624063	NM_018143.3(KLHL11):c.134C>T (p.Thr45Met)	KLHL11 (T45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592196	NM_018143.3(KLHL11):c.1541G>A (p.Arg514Gln)	KLHL11 (R514Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553601	NM_018143.3(KLHL11):c.2083G>T (p.Ala695Ser)	KLHL11 (A695S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494191	NM_018143.3(KLHL11):c.97T>G (p.Ser33Ala)	KLHL11 (S33A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485316	NM_018143.3(KLHL11):c.1737A>C (p.Lys579Asn)	KLHL11 (K579N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479211	NM_018143.3(KLHL11):c.47C>A (p.Ala16Glu)	KLHL11 (A16E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461095	NM_018143.3(KLHL11):c.2090A>G (p.Asn697Ser)	KLHL11 (N697S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457274	NM_018143.3(KLHL11):c.1744A>G (p.Ser582Gly)	KLHL11 (S582G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405195	NM_018143.3(KLHL11):c.46G>C (p.Ala16Pro)	KLHL11 (A16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333846	NM_018143.3(KLHL11):c.2092A>G (p.Met698Val)	KLHL11 (M698V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325285	NM_018143.3(KLHL11):c.434C>G (p.Ser145Cys)	KLHL11 (S145C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253847	NM_018143.3(KLHL11):c.277T>C (p.Phe93Leu)	KLHL11 (F93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223119	NM_018143.3(KLHL11):c.130G>C (p.Gly44Arg)	KLHL11 (G44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212416	NM_018143.3(KLHL11):c.308C>T (p.Ala103Val)	KLHL11 (A103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 31