5234[HGNC] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 3107300	NM_005527.4(HSPA1L):c.1918G>A (p.Val640Ile)	HSPA1L (V640I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596764	NM_005527.4(HSPA1L):c.1909A>G (p.Ile637Val)	HSPA1L (I637V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284934	NM_005527.4(HSPA1L):c.1843G>A (p.Gly615Arg)	HSPA1L (G615R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282672	NM_005527.4(HSPA1L):c.1831A>G (p.Lys611Glu)	HSPA1L (K611E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059263	NM_005527.4(HSPA1L):c.1804G>A (p.Glu602Lys)	HSPA1L (E602K)	Single nucleotide variant (missense variant)	HSPA1L-related disorder	GBenign
Select item 2313320	NM_005527.4(HSPA1L):c.1746G>T (p.Trp582Cys)	HSPA1L (W582C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296643	NM_005527.4(HSPA1L):c.1718T>C (p.Leu573Ser)	HSPA1L (L573S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722186	NM_005527.4(HSPA1L):c.1705_1709del (p.Asp568_Lys569insTer)	HSPA1L	Deletion (nonsense)	not provided	GLikely benign
Select item 372131	NM_005527.4(HSPA1L):c.1673A>C (p.Glu558Ala)	HSPA1L (E558A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2533364	NM_005527.4(HSPA1L):c.1619C>T (p.Ala540Val)	HSPA1L (A540V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107299	NM_005527.4(HSPA1L):c.1588G>A (p.Glu530Lys)	HSPA1L (E530K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752710	NM_005527.4(HSPA1L):c.1483_1484del (p.Lys495fs)	HSPA1L (K495fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 3060421	NM_005527.4(HSPA1L):c.1478C>T (p.Thr493Met)	HSPA1L (T493M)	Single nucleotide variant (missense variant)	HSPA1L-related disorder	GBenign
Select item 694520	NM_005527.4(HSPA1L):c.1478C>A (p.Thr493Lys)	HSPA1L (T493K)	Single nucleotide variant (missense variant)	Chronic obstructive pulmonary disease	Gassociation
Select item 3107298	NM_005527.4(HSPA1L):c.1466A>G (p.Asn489Ser)	HSPA1L (N489S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292994	NM_005527.4(HSPA1L):c.1451C>T (p.Ala484Val)	HSPA1L (A484V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783631	NM_005527.4(HSPA1L):c.1443C>T (p.Asp481=)	HSPA1L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784068	NM_005527.4(HSPA1L):c.1436C>T (p.Thr479Met)	HSPA1L (T479M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2478781	NM_005527.4(HSPA1L):c.1430A>T (p.Glu477Val)	HSPA1L (E477V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789588	NM_005527.4(HSPA1L):c.1428C>T (p.Ile476=)	HSPA1L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2261421	NM_005527.4(HSPA1L):c.1315G>A (p.Gly439Arg)	HSPA1L (G439R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039314	NM_005527.4(HSPA1L):c.1314C>G (p.Pro438=)	HSPA1L	Single nucleotide variant (synonymous variant)	HSPA1L-related disorder	GLikely benign
Select item 3107297	NM_005527.4(HSPA1L):c.1313C>T (p.Pro438Leu)	HSPA1L (P438L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059212	NM_005527.4(HSPA1L):c.1221G>A (p.Thr407=)	HSPA1L	Single nucleotide variant (synonymous variant)	HSPA1L-related disorder	GBenign
Select item 2656429	NM_005527.4(HSPA1L):c.1109C>T (p.Ala370Val)	HSPA1L (A370V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2535392	NM_005527.4(HSPA1L):c.1066T>G (p.Phe356Val)	HSPA1L (F356V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035591	NM_005527.4(HSPA1L):c.1053G>C (p.Leu351=)	HSPA1L	Single nucleotide variant (synonymous variant)	HSPA1L-related disorder	GLikely benign
Select item 3284935	NM_005527.4(HSPA1L):c.1037C>T (p.Pro346Leu)	HSPA1L (P346L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212462	NM_005527.4(HSPA1L):c.1016T>C (p.Val339Ala)	HSPA1L (V339A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251319	NM_005527.4(HSPA1L):c.991G>T (p.Ala331Ser)	HSPA1L (A331S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284932	NM_005527.4(HSPA1L):c.955G>A (p.Val319Ile)	HSPA1L (V319I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518035	NM_005527.4(HSPA1L):c.940G>T (p.Gly314Cys)	HSPA1L (G314C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059804	NM_005527.4(HSPA1L):c.919T>C (p.Leu307=)	HSPA1L	Single nucleotide variant (synonymous variant)	HSPA1L-related disorder	GBenign
Select item 2289122	NM_005527.4(HSPA1L):c.874G>A (p.Gly292Ser)	HSPA1L (G292S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284931	NM_005527.4(HSPA1L):c.865C>T (p.Leu289Phe)	HSPA1L (L289F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 372132	NM_005527.4(HSPA1L):c.802G>A (p.Ala268Thr)	HSPA1L (A268T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 372133	NM_005527.4(HSPA1L):c.800C>T (p.Thr267Ile)	HSPA1L (T267I)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 1	Gassociation
Select item 3284930	NM_005527.4(HSPA1L):c.799A>G (p.Thr267Ala)	HSPA1L (T267A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348410	NM_005527.4(HSPA1L):c.784G>A (p.Val262Met)	HSPA1L (V262M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344643	NM_005527.4(HSPA1L):c.779G>A (p.Arg260Gln)	HSPA1L (R260Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656430	NM_005527.4(HSPA1L):c.747G>A (p.Arg249=)	HSPA1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2511169	NM_005527.4(HSPA1L):c.730G>T (p.Val244Leu)	HSPA1L (V244L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476191	NM_005527.4(HSPA1L):c.650G>A (p.Gly217Glu)	HSPA1L (G217E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327961	NM_005527.4(HSPA1L):c.610G>A (p.Gly204Arg)	HSPA1L (G204R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788099	NM_005527.4(HSPA1L):c.584G>A (p.Arg195Gln)	HSPA1L (R195Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2409023	NM_005527.4(HSPA1L):c.569G>C (p.Gly190Ala)	HSPA1L (G190A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2632432	NM_005527.4(HSPA1L):c.560T>G (p.Leu187Ter)	HSPA1L (L187*)	Single nucleotide variant (nonsense)	HSPA1L-related disorder	GUncertain significance
Select item 2556496	NM_005527.4(HSPA1L):c.536C>T (p.Thr179Met)	HSPA1L (T179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 372135	NM_005527.4(HSPA1L):c.515_517del (p.Leu172del)	HSPA1L (L172del)	Deletion (inframe_deletion)	Inflammatory bowel disease 1	Gassociation
Select item 2257417	NM_005527.4(HSPA1L):c.500C>A (p.Ala167Asp)	HSPA1L (A167D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784069	NM_005527.4(HSPA1L):c.420T>C (p.Pro140=)	HSPA1L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3107302	NM_005527.4(HSPA1L):c.350A>G (p.Tyr117Cys)	HSPA1L (Y117C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234763	NM_005527.4(HSPA1L):c.259G>T (p.Ala87Ser)	HSPA1L (A87S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372134	NM_005527.4(HSPA1L):c.229G>A (p.Gly77Ser)	HSPA1L (G77S)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 1	Gassociation
Select item 3284929	NM_005527.4(HSPA1L):c.221G>A (p.Arg74His)	HSPA1L (R74H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030089	NM_005527.4(HSPA1L):c.220del (p.Arg74fs)	HSPA1L (R74fs)	Deletion (frameshift variant)	HSPA1L-related disorder	GUncertain significance
Select item 2281514	NM_005527.4(HSPA1L):c.182T>A (p.Val61Glu)	HSPA1L (V61E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3027221	NM_005527.4(HSPA1L):c.161G>C (p.Gly54Ala)	HSPA1L (G54A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3053197	NM_005527.4(HSPA1L):c.141A>G (p.Thr47=)	HSPA1L	Single nucleotide variant (synonymous variant)	HSPA1L-related disorder	GLikely benign
Select item 3107296	NM_005527.4(HSPA1L):c.113G>A (p.Arg38His)	HSPA1L (R38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287331	NM_005527.4(HSPA1L):c.94G>A (p.Ala32Thr)	HSPA1L (A32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236227	NM_005527.4(HSPA1L):c.91A>G (p.Ile31Val)	HSPA1L (I31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267392	NM_005527.4(HSPA1L):c.69C>G (p.Phe23Leu)	HSPA1L (F23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623152	NM_005527.4(HSPA1L):c.68T>C (p.Phe23Ser)	HSPA1L (F23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107301	NM_005527.4(HSPA1L):c.34G>A (p.Asp12Asn)	HSPA1L (D12N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056962	NM_005527.4(HSPA1L):c.22G>C (p.Ala8Pro)	HSPA1L (A8P)	Single nucleotide variant (missense variant)	HSPA1L-related disorder	GBenign
Select item 3041479	NM_005527.4(HSPA1L):c.9T>G (p.Thr3=)	HSPA1L	Single nucleotide variant (synonymous variant)	HSPA1L-related disorder	GLikely benign
Select item 3246239	NC_000006.11:g.(?_31620520)_(31937492_?)del	ABHD16A, APOM +28 more	Deletion	not provided	GUncertain significance
Select item 3246158	NC_000006.11:g.(?_31631971)_(31895135_?)del	ABHD16A, C2 +23 more	Deletion	not provided	GPathogenic
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 1527232	GRCh37/hg19 6p21.33(chr6:31384577-31902308)	ABHD16A, AIF1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	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 395085	GRCh37/hg19 6p21.33(chr6:31782789-31797422)x1	HSPA1A, HSPA1B +1 more	Copy number loss	See cases	GBenign
Select item 394977	GRCh37/hg19 6p21.33(chr6:31777500-31831302)x1	SLC44A4, SNHG32 +4 more	Copy number loss	See cases	GLikely benign

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Items: 79