ClinVar for Gene (Select 55323) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2624219	NM_018357.4(LARP6):c.238G>T (p.Asp80Tyr)	LARP6 (D80Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620847	NM_018357.4(LARP6):c.212C>T (p.Ala71Val)	LARP6 (A71V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618000	NM_018357.4(LARP6):c.100G>A (p.Glu34Lys)	LARP6, LRRC49 (E34K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605803	NM_018357.4(LARP6):c.1171G>A (p.Gly391Ser)	LARP6 (G207S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555681	NM_018357.4(LARP6):c.13G>C (p.Gly5Arg)	LARP6, LRRC49 (G5R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546826	NM_018357.4(LARP6):c.442A>G (p.Thr148Ala)	LARP6 (T148A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546625	NM_018357.4(LARP6):c.1021G>A (p.Asp341Asn)	LARP6 (D341N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531987	NM_018357.4(LARP6):c.400T>A (p.Ser134Thr)	LARP6 (S134T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 2469027	NM_018357.4(LARP6):c.316G>A (p.Asp106Asn)	LARP6 (D106N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464607	NM_018357.4(LARP6):c.206C>T (p.Thr69Ile)	LARP6 (T69I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408642	NM_018357.4(LARP6):c.355G>T (p.Val119Leu)	LARP6 (V119L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401038	NM_018357.4(LARP6):c.1247G>A (p.Cys416Tyr)	LARP6 (C416Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393609	NM_018357.4(LARP6):c.337G>A (p.Ala113Thr)	LARP6 (A113T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389158	NM_018357.4(LARP6):c.310T>C (p.Phe104Leu)	LARP6 (F104L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2384614	NM_018357.4(LARP6):c.746G>A (p.Arg249His)	LARP6 (R65H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376874	NM_018357.4(LARP6):c.140C>T (p.Ala47Val)	LARP6, LRRC49 (A47V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371411	NM_018357.4(LARP6):c.922G>A (p.Glu308Lys)	LARP6 (E124K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356385	NM_018357.4(LARP6):c.437G>A (p.Arg146Lys)	LARP6 (R146K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352106	NM_018357.4(LARP6):c.917A>G (p.His306Arg)	LARP6 (H306R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347835	NM_018357.4(LARP6):c.658C>A (p.Leu220Ile)	LARP6 (L220I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307792	NM_018357.4(LARP6):c.124G>C (p.Gly42Arg)	LARP6, LRRC49 (G42R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294018	NM_018357.4(LARP6):c.813A>T (p.Lys271Asn)	LARP6 (K271N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275897	NM_018357.4(LARP6):c.385G>A (p.Val129Ile)	LARP6 (V129I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264802	NM_018357.4(LARP6):c.517G>A (p.Val173Ile)	LARP6 (V173I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256456	NM_018357.4(LARP6):c.589C>G (p.Leu197Val)	LARP6 (L13V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252690	NM_018357.4(LARP6):c.1402G>T (p.Val468Leu)	LARP6 (V284L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235688	NM_018357.4(LARP6):c.1165C>A (p.Arg389Ser)	LARP6 (R205S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208561	NM_018357.4(LARP6):c.193G>C (p.Gly65Arg)	LARP6, LRRC49 (G65R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980531	GRCh37/hg19 15q23-24.1(chr15:70268937-74098081)x1	BBS4, NR2E3 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 785500	NM_018357.4(LARP6):c.354C>T (p.His118=)	LARP6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic
Select item 221500	GRCh37/hg19 15q23(chr15:69079813-72040847)x3	THAP10, THSD4 +12 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	LOC121530589, LOC121530590 +487 more	Copy number loss	See cases	GPathogenic
Select item 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +196 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 53