Related gene-specific medical variations for Gene (Select 54839) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325806	NM_020147.4(THAP10):c.56C>G (p.Ser19Trp)	LRRC49, THAP10 (S19W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325805	NM_020147.4(THAP10):c.569G>A (p.Arg190His)	LRRC49, THAP10 (R190H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325804	NM_020147.4(THAP10):c.92T>C (p.Leu31Pro)	LRRC49, THAP10 (L31P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176876	NM_020147.4(THAP10):c.511T>G (p.Cys171Gly)	LRRC49, THAP10 (C171G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176875	NM_020147.4(THAP10):c.362C>G (p.Ser121Cys)	LRRC49, THAP10 (S121C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176874	NM_020147.4(THAP10):c.286G>T (p.Ala96Ser)	LRRC49, THAP10 (A96S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176873	NM_020147.4(THAP10):c.148C>T (p.Arg50Cys)	LRRC49, THAP10 (R50C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618000	NM_018357.4(LARP6):c.100G>A (p.Glu34Lys)	LARP6, LRRC49 (E34K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606904	NM_020147.4(THAP10):c.394C>T (p.Arg132Cys)	LRRC49, THAP10 (R132C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555681	NM_018357.4(LARP6):c.13G>C (p.Gly5Arg)	LARP6, LRRC49 (G5R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539299	NM_020147.4(THAP10):c.79C>T (p.Arg27Trp)	LRRC49, THAP10 (R27W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532365	NM_020147.4(THAP10):c.149G>T (p.Arg50Leu)	LRRC49, THAP10 (R50L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512555	NM_020147.4(THAP10):c.82G>A (p.Ala28Thr)	LRRC49, THAP10 (A28T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485063	NM_020147.4(THAP10):c.746C>T (p.Ala249Val)	LRRC49, THAP10 (A249V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475988	NM_020147.4(THAP10):c.664C>G (p.Leu222Val)	LRRC49, THAP10 (L222V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461393	NM_020147.4(THAP10):c.314A>T (p.Gln105Leu)	LRRC49, THAP10 (Q105L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386446	NM_018357.4(LARP6):c.199A>G (p.Ser67Gly)	LARP6, LRRC49 (R67G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380071	NM_020147.4(THAP10):c.434C>T (p.Thr145Met)	LRRC49, THAP10 (T145M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376874	NM_018357.4(LARP6):c.140C>T (p.Ala47Val)	LARP6, LRRC49 (A47V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364094	NM_020147.4(THAP10):c.202G>A (p.Val68Ile)	LRRC49, THAP10 (V68I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331566	NM_020147.4(THAP10):c.85G>A (p.Val29Met)	THAP10, LRRC49 (V29M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307792	NM_018357.4(LARP6):c.124G>C (p.Gly42Arg)	LARP6, LRRC49 (G42R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266215	NM_020147.4(THAP10):c.634A>G (p.Thr212Ala)	LRRC49, THAP10 (T212A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236637	NM_020147.4(THAP10):c.25C>T (p.His9Tyr)	LRRC49, THAP10 (H9Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232832	NM_020147.4(THAP10):c.403G>T (p.Ala135Ser)	LRRC49, THAP10 (A135S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214799	NM_020147.4(THAP10):c.272G>A (p.Arg91Gln)	LRRC49, THAP10 (R91Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208561	NM_018357.4(LARP6):c.193G>C (p.Gly65Arg)	LARP6, LRRC49 (G65R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 27