ClinVar for Gene (Select 5276) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3160509	NM_006217.6(SERPINI2):c.980A>T (p.Tyr327Phe)	SERPINI2 (Y327F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160508	NM_006217.6(SERPINI2):c.802G>A (p.Ala268Thr)	SERPINI2 (A268T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160507	NM_006217.6(SERPINI2):c.64T>C (p.Ser22Pro)	SERPINI2 (S22P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160506	NM_006217.6(SERPINI2):c.499T>A (p.Ser167Thr)	SERPINI2 (S167T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160505	NM_006217.6(SERPINI2):c.439G>T (p.Ala147Ser)	SERPINI2 (A147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160504	NM_006217.6(SERPINI2):c.169G>A (p.Glu57Lys)	SERPINI2 (E57K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160503	NM_006217.6(SERPINI2):c.1049C>T (p.Thr350Ile)	SERPINI2 (T350I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024629	GRCh37/hg19 3q26.1-26.2(chr3:164432414-167873834)x1	BCHE, GOLIM4 +7 more	Copy number loss	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2531050	NM_006217.6(SERPINI2):c.859C>T (p.Leu287Phe)	SERPINI2 (L287F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410363	NM_006217.6(SERPINI2):c.728G>A (p.Gly243Asp)	SERPINI2 (G243D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350496	NM_006217.6(SERPINI2):c.239C>G (p.Thr80Ser)	SERPINI2 (T80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345598	NM_006217.6(SERPINI2):c.301C>A (p.Gln101Lys)	SERPINI2 (Q101K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328591	NM_006217.6(SERPINI2):c.842A>G (p.Glu281Gly)	SERPINI2 (E281G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306759	NM_006217.6(SERPINI2):c.560G>C (p.Gly187Ala)	SERPINI2 (G187A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288130	NM_006217.6(SERPINI2):c.122A>T (p.His41Leu)	SERPINI2 (H41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285844	NM_006217.6(SERPINI2):c.166C>T (p.Leu56Phe)	SERPINI2 (L56F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271471	NM_006217.6(SERPINI2):c.671A>T (p.Tyr224Phe)	SERPINI2 (Y224F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249723	NM_006217.6(SERPINI2):c.655C>A (p.Leu219Ile)	SERPINI2 (L219I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527053	GRCh37/hg19 3q26.1-26.2(chr3:163595552-168022596)	BCHE, GOLIM4 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 980547	GRCh37/hg19 3q26.1(chr3:166831213-167390123)x1	SERPINI2, ZBBX +1 more	Copy number loss	not provided	GUncertain significance
Select item 814495	GRCh37/hg19 3q26.1(chr3:167187409-167318904)x1	WDR49, SERPINI2	Copy number loss	not provided	GUncertain significance
Select item 686844	GRCh37/hg19 3q26.1-26.2(chr3:165603872-168796960)x1	GOLIM4, PDCD10 +4 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	LRRC31, MCCC1 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 150634	GRCh38/hg38 3q26.1(chr3:167281403-167554689)x1	LINC01327, SERPINI2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 147458	GRCh38/hg38 3q26.1-26.2(chr3:166831737-170631211)x3	ACTRT3, CLDN11 +101 more	Copy number gain	See cases	GUncertain significance
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +303 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 41