ClinVar for Gene (Select 51156) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317536	NM_001100607.3(SERPINA10):c.494T>A (p.Phe165Tyr)	SERPINA10 (F165Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317535	NM_001100607.3(SERPINA10):c.851G>A (p.Arg284His)	SERPINA10 (R284H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3160291	NM_001100607.3(SERPINA10):c.896T>C (p.Leu299Pro)	SERPINA10 (L299P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160289	NM_001100607.3(SERPINA10):c.833C>A (p.Thr278Asn)	SERPINA10 (T278N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160288	NM_001100607.3(SERPINA10):c.760G>A (p.Asp254Asn)	SERPINA10 (D254N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160287	NM_001100607.3(SERPINA10):c.641G>A (p.Arg214Gln)	SERPINA10 (R214Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3160286	NM_001100607.3(SERPINA10):c.515T>C (p.Phe172Ser)	SERPINA10 (F172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160285	NM_001100607.3(SERPINA10):c.395C>T (p.Ala132Val)	SERPINA10 (A132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160284	NM_001100607.3(SERPINA10):c.331G>C (p.Gly111Arg)	SERPINA10 (G111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160283	NM_001100607.3(SERPINA10):c.32T>C (p.Val11Ala)	SERPINA10 (V11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160282	NM_001100607.3(SERPINA10):c.142G>A (p.Glu48Lys)	SERPINA10 (E48K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160279	NM_001100607.3(SERPINA10):c.1162A>G (p.Ile388Val)	SERPINA10 (I388V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160278	NM_001100607.3(SERPINA10):c.1065G>C (p.Met355Ile)	SERPINA10 (M355I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2543862	NM_001100607.3(SERPINA10):c.1253G>A (p.Arg418Gln)	SERPINA10 (R418Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529762	NM_001100607.3(SERPINA10):c.184G>C (p.Glu62Gln)	SERPINA10 (E62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513706	NM_001100607.3(SERPINA10):c.1030C>A (p.Gln344Lys)	SERPINA10 (Q344K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464968	NM_001100607.3(SERPINA10):c.289A>C (p.Asn97His)	SERPINA10 (N97H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461231	NM_001100607.3(SERPINA10):c.890C>T (p.Thr297Ile)	SERPINA10 (T297I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SYNE3, TC2N +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	ASB2, ATXN3 +42 more	Duplication	Achondrogenesis, type IA	GUncertain significance
Select item 2403051	NM_001100607.3(SERPINA10):c.1327C>T (p.Leu443Phe)	SERPINA10 (L443F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392775	NM_001100607.3(SERPINA10):c.970T>C (p.Trp324Arg)	SERPINA10 (W324R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373330	NM_001100607.3(SERPINA10):c.640C>T (p.Arg214Trp)	SERPINA10 (R214W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348056	NM_001100607.3(SERPINA10):c.520G>A (p.Val174Ile)	SERPINA10 (V174I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318074	NM_001100607.3(SERPINA10):c.274A>T (p.Met92Leu)	SERPINA10 (M92L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316778	NM_001100607.3(SERPINA10):c.31G>A (p.Val11Ile)	SERPINA10 (V11I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315180	NM_001100607.3(SERPINA10):c.1230G>A (p.Met410Ile)	SERPINA10 (M410I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289781	NM_001100607.3(SERPINA10):c.148G>C (p.Glu50Gln)	SERPINA10 (E50Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274702	NM_001100607.3(SERPINA10):c.1156A>G (p.Thr386Ala)	SERPINA10 (T386A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2224535	NM_001100607.3(SERPINA10):c.334T>G (p.Leu112Val)	SERPINA10 (L112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218650	NM_001100607.3(SERPINA10):c.1289G>C (p.Gly430Ala)	SERPINA10 (G430A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211853	NM_001100607.3(SERPINA10):c.263G>A (p.Arg88Gln)	SERPINA10 (R88Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807616	GRCh37/hg19 14q32.12-32.13(chr14:94637559-95522984)x3	GSC, PPP4R4 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 1526435	GRCh37/hg19 14q32.12-32.13(chr14:94442454-95185710)	ASB2, DDX24 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1526434	GRCh37/hg19 14q32.12-32.13(chr14:94400492-96192218)	PPP4R4, SERPINA1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 1348382	NC_000014.8:g.(?_93687728)_(95560403_?)del	ASB2, BTBD7 +23 more	Deletion	DICER1-related tumor predisposition	GLikely pathogenic
Select item 979156	NM_001100607.3(SERPINA10):c.262C>T (p.Arg88Ter)	SERPINA10 (R88*)	Single nucleotide variant (nonsense)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	ATXN3, BAG5 +164 more	Copy number gain	not provided	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 441640	GRCh37/hg19 14q32.12-32.13(chr14:93498930-96059698)x3	ASB2, BTBD7 +31 more	Copy number gain	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 5106	NM_001100607.3(SERPINA10):c.972G>A (p.Trp324Ter)	SERPINA10 (W324*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 59