Related gene-specific medical variations for Gene (Select 283212) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289002	NM_001039548.3(KLHL35):c.295G>A (p.Ala99Thr)	KLHL35, LOC130006426 (A99T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289001	NM_001039548.3(KLHL35):c.308T>C (p.Leu103Pro)	KLHL35, LOC130006426 (L103P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115714	NM_001039548.3(KLHL35):c.425G>C (p.Cys142Ser)	KLHL35, LOC130006425 (C142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115712	NM_001039548.3(KLHL35):c.253G>A (p.Val85Met)	KLHL35, LOC130006426 (V85M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115711	NM_001039548.3(KLHL35):c.194A>G (p.Tyr65Cys)	KLHL35, LOC130006426 (Y65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115700	NM_001039548.3(KLHL35):c.1006C>A (p.Pro336Thr)	KLHL35, LOC111822946 (P336T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642156	NM_001039548.3(KLHL35):c.124G>T (p.Asp42Tyr)	KLHL35, LOC130006426 (D42Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2607538	NM_001039548.3(KLHL35):c.143G>C (p.Gly48Ala)	KLHL35, LOC130006426 (G48A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489892	NM_001039548.3(KLHL35):c.116C>T (p.Thr39Ile)	KLHL35, LOC130006426 (T39I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481085	NM_001039548.3(KLHL35):c.200G>C (p.Arg67Pro)	KLHL35, LOC130006426 (R67P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408929	NM_001039548.3(KLHL35):c.275C>A (p.Pro92Gln)	KLHL35, LOC130006426 (P92Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388060	NM_001039548.3(KLHL35):c.92T>C (p.Leu31Pro)	KLHL35, LOC130006426 (L31P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357333	NM_001039548.3(KLHL35):c.230G>A (p.Arg77His)	KLHL35, LOC130006426 (R77H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343153	NM_001039548.3(KLHL35):c.232G>A (p.Gly78Ser)	KLHL35, LOC130006426 (G78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333234	NM_001039548.3(KLHL35):c.119T>A (p.Leu40His)	KLHL35, LOC130006426 (L40H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329778	NM_001039548.3(KLHL35):c.416G>A (p.Arg139His)	KLHL35, LOC130006425 (R139H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253596	NM_001039548.3(KLHL35):c.169G>A (p.Ala57Thr)	KLHL35, LOC130006426 (A57T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241836	NM_001039548.3(KLHL35):c.422C>T (p.Ala141Val)	KLHL35, LOC130006425 (A141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance