LRRC49[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 2386446	NM_018357.4(LARP6):c.199A>G (p.Ser67Gly)	LRRC49, LARP6 (R67G +1 more)	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
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2331566	NM_020147.4(THAP10):c.85G>A (p.Val29Met)	LRRC49, THAP10 (V29M)	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 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 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 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 2218346	NM_017691.5(LRRC49):c.35G>A (p.Arg12Gln)	LRRC49 (R12Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3291675	NM_017691.5(LRRC49):c.158A>G (p.Gln53Arg)	LRRC49 (Q58R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326509	NM_017691.5(LRRC49):c.166C>G (p.Leu56Val)	LRRC49 (L61V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204565	NM_017691.5(LRRC49):c.200A>G (p.His67Arg)	LRRC49 (H72R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291674	NM_017691.5(LRRC49):c.248G>A (p.Arg83His)	LRRC49 (R39H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362660	NM_017691.5(LRRC49):c.283T>A (p.Leu95Met)	LRRC49 (L100M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120776	NM_017691.5(LRRC49):c.347T>C (p.Leu116Ser)	LRRC49 (L116S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291679	NM_017691.5(LRRC49):c.376C>T (p.Arg126Trp)	LRRC49 (R82W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120777	NM_017691.5(LRRC49):c.377G>A (p.Arg126Gln)	LRRC49 (R126Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244974	NM_017691.5(LRRC49):c.404A>C (p.Lys135Thr)	LRRC49 (K135T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291672	NM_017691.5(LRRC49):c.469T>C (p.Cys157Arg)	LRRC49 (C113R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357615	NM_017691.5(LRRC49):c.509A>C (p.Lys170Thr)	LRRC49 (K170T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120778	NM_017691.5(LRRC49):c.683A>C (p.Asn228Thr)	LRRC49 (N233T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406653	NM_017691.5(LRRC49):c.831T>A (p.Asp277Glu)	LRRC49 (D233E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486694	NM_017691.5(LRRC49):c.886A>G (p.Met296Val)	LRRC49 (M2V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528847	NM_017691.5(LRRC49):c.896G>A (p.Arg299His)	LRRC49 (R299H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369777	NM_017691.5(LRRC49):c.920C>T (p.Thr307Met)	LRRC49 (T13M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555449	NM_017691.5(LRRC49):c.934C>T (p.Arg312Cys)	LRRC49 (R268C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120779	NM_017691.5(LRRC49):c.940G>A (p.Ala314Thr)	LRRC49 (A20T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295445	NM_017691.5(LRRC49):c.976C>T (p.Arg326Trp)	LRRC49 (R326W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291678	NM_017691.5(LRRC49):c.1052T>G (p.Leu351Trp)	LRRC49 (L351W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120769	NM_017691.5(LRRC49):c.1103C>T (p.Ser368Phe)	LRRC49 (S368F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291677	NM_017691.5(LRRC49):c.1120C>T (p.Pro374Ser)	LRRC49 (P364S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120770	NM_017691.5(LRRC49):c.1128G>T (p.Gln376His)	LRRC49 (Q381H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619051	NM_017691.5(LRRC49):c.1175T>C (p.Leu392Pro)	LRRC49 (L98P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483509	NM_017691.5(LRRC49):c.1190A>G (p.Asn397Ser)	LRRC49 (N103S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120772	NM_017691.5(LRRC49):c.1316G>A (p.Gly439Glu)	LRRC49 (G395E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511872	NM_017691.5(LRRC49):c.1363G>A (p.Val455Ile)	LRRC49 (V411I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291671	NM_017691.5(LRRC49):c.1370T>G (p.Val457Gly)	LRRC49 (V163G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291673	NM_017691.5(LRRC49):c.1438A>T (p.Met480Leu)	LRRC49 (M186L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232237	NM_017691.5(LRRC49):c.1460T>C (p.Leu487Pro)	LRRC49 (L477P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120773	NM_017691.5(LRRC49):c.1471C>T (p.Arg491Cys)	LRRC49 (R491C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291680	NM_017691.5(LRRC49):c.1495G>T (p.Asp499Tyr)	LRRC49 (D455Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120774	NM_017691.5(LRRC49):c.1498C>G (p.Pro500Ala)	LRRC49 (P456A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522018	NM_017691.5(LRRC49):c.1588A>C (p.Thr530Pro)	LRRC49 (T520P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315789	NM_017691.5(LRRC49):c.1610T>C (p.Met537Thr)	LRRC49 (M542T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120775	NM_017691.5(LRRC49):c.1678C>G (p.Leu560Val)	LRRC49 (L516V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556194	NM_017691.5(LRRC49):c.1713A>T (p.Gln571His)	LRRC49 (Q527H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267025	NM_017691.5(LRRC49):c.1764A>C (p.Glu588Asp)	LRRC49 (E544D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243411	NM_017691.5(LRRC49):c.1841A>G (p.Tyr614Cys)	LRRC49 (Y570C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214323	NM_017691.5(LRRC49):c.1924A>G (p.Ile642Val)	LRRC49 (I348V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +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 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic
Select item 221500	GRCh37/hg19 15q23(chr15:69079813-72040847)x3	ANP32A, CT62 +12 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 83