ClinVar for Gene (Select 10767) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283585	NM_006620.4(HBS1L):c.619G>A (p.Asp207Asn)	HBS1L (D165N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283584	NM_006620.4(HBS1L):c.515A>G (p.Gln172Arg)	HBS1L (Q172R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283583	NM_006620.4(HBS1L):c.1454A>G (p.Asp485Gly)	HBS1L (D321G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104426	NM_006620.4(HBS1L):c.98C>T (p.Ser33Leu)	HBS1L (S33L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104425	NM_006620.4(HBS1L):c.452C>T (p.Thr151Ile)	HBS1L (T151I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104423	NM_006620.4(HBS1L):c.436C>G (p.Pro146Ala)	HBS1L (P146A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104422	NM_006620.4(HBS1L):c.197A>G (p.Asn66Ser)	HBS1L (N66S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3104421	NM_006620.4(HBS1L):c.1921G>A (p.Ala641Thr)	HBS1L (A599T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104420	NM_006620.4(HBS1L):c.1766A>G (p.Asn589Ser)	HBS1L (N547S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104419	NM_006620.4(HBS1L):c.1709G>A (p.Gly570Asp)	HBS1L (G406D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104418	NM_006620.4(HBS1L):c.148G>A (p.Val50Ile)	HBS1L (V50I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3104417	NM_006620.4(HBS1L):c.1270A>G (p.Lys424Glu)	HBS1L (K260E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104416	NM_006620.4(HBS1L):c.1067T>A (p.Ile356Asn)	HBS1L (I192N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2533356	NM_006620.4(HBS1L):c.761G>A (p.Arg254Gln)	HBS1L (R254Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512873	NM_006620.4(HBS1L):c.1697G>A (p.Cys566Tyr)	HBS1L (C402Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511849	NM_006620.4(HBS1L):c.341A>C (p.Lys114Thr)	HBS1L (K114T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481188	NM_006620.4(HBS1L):c.596T>C (p.Ile199Thr)	HBS1L (I199T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394017	NM_006620.4(HBS1L):c.484G>A (p.Val162Ile)	HBS1L (V162I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374957	NM_006620.4(HBS1L):c.1642G>A (p.Asp548Asn)	HBS1L (D506N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358742	NM_006620.4(HBS1L):c.1085C>T (p.Ala362Val)	HBS1L (A362V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331459	NM_006620.4(HBS1L):c.1648G>A (p.Val550Ile)	HBS1L (V508I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307132	NM_006620.4(HBS1L):c.1556G>A (p.Arg519Gln)	HBS1L (R355Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265071	NM_006620.4(HBS1L):c.173A>C (p.Tyr58Ser)	HBS1L (Y58S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2261119	NM_006620.4(HBS1L):c.1160G>A (p.Arg387Gln)	HBS1L (R387Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204148	NM_006620.4(HBS1L):c.1480G>C (p.Asp494His)	HBS1L (D494H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 1340932	GRCh37/hg19 6q23.1-23.3(chr6:130769034-136009217)x1	AHI1, AKAP7 +30 more	Copy number loss	not provided	GPathogenic
Select item 1339985	GRCh37/hg19 6q23.2-23.3(chr6:134943459-135498127)x3	ALDH8A1, HBS1L	Copy number gain	not provided	GLikely benign
Select item 1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	MYB, NHSL1 +32 more	Copy number loss	not provided	GPathogenic
Select item 814871	GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)x1	SLC35D3, IFNGR1 +32 more	Copy number loss	not provided	GPathogenic
Select item 778253	NM_006620.4(HBS1L):c.2043+5T>G	HBS1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777171	NM_006620.4(HBS1L):c.439G>A (p.Val147Ile)	HBS1L (V147I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 740134	NM_006620.4(HBS1L):c.99G>A (p.Ser33=)	HBS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 724630	NM_006620.4(HBS1L):c.66C>T (p.Tyr22=)	HBS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 720121	NM_006620.4(HBS1L):c.450G>C (p.Gln150His)	HBS1L (Q150H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 563236	GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1	ALDH8A1, PDE7B +31 more	Copy number loss	not provided	GPathogenic
Select item 563235	GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1	ALDH8A1, VNN2 +37 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 127266	NM_006620.3(HBS1L):c.-380A>C	HBS1L	Single nucleotide variant	not provided	GUncertain significance

ClinVar

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Links from Gene

Items: 47