GP2[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 147965	GRCh38/hg38 16p12.3(chr16:19910619-20433405)x4	ACSM5, GP2 +5 more	Copy number gain	See cases	GUncertain significance
Select item 145632	GRCh38/hg38 16p12.3(chr16:20229045-20627132)x1	ACSM1, ACSM2A +6 more	Copy number loss	See cases	GUncertain significance
Select item 3101050	NM_001502.4(GP2):c.1562G>T (p.Trp521Leu)	GP2 (W374L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274114	NM_001502.4(GP2):c.1549T>C (p.Phe517Leu)	GP2 (F370L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786288	NM_001502.4(GP2):c.1548G>T (p.Gly516=)	GP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2265296	NM_001502.4(GP2):c.1495C>T (p.Arg499Trp)	GP2 (R352W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717406	NM_001502.4(GP2):c.1458C>T (p.Ile486=)	GP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2514112	NM_001502.4(GP2):c.1441A>G (p.Ser481Gly)	GP2 (S334G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465523	NM_001502.4(GP2):c.1414C>T (p.Pro472Ser)	GP2 (P328S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101049	NM_001502.4(GP2):c.1397T>C (p.Leu466Pro)	GP2 (L319P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101048	NM_001502.4(GP2):c.1370A>G (p.His457Arg)	GP2 (H313R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101047	NM_001502.4(GP2):c.1307C>G (p.Ser436Trp)	GP2 (S289W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1276754	NM_001502.4(GP2):c.1285G>A (p.Val429Met)	GP2 (V282M +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2251917	NM_001502.4(GP2):c.1169G>A (p.Arg390Gln)	GP2 (R390Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101046	NM_001502.4(GP2):c.1135G>A (p.Val379Met)	GP2 (V379M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379340	NM_001502.4(GP2):c.1126G>A (p.Val376Met)	GP2 (V229M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3101044	NM_001502.4(GP2):c.1030G>A (p.Gly344Arg)	GP2 (G197R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723602	NM_001502.4(GP2):c.1017C>T (p.Asn339=)	GP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2286559	NM_001502.4(GP2):c.877A>T (p.Ile293Phe)	GP2 (I149F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383959	NM_001502.4(GP2):c.822C>A (p.Ser274Arg)	GP2 (S127R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215877	NM_001502.4(GP2):c.761G>A (p.Arg254Gln)	GP2 (R254Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101057	NM_001502.4(GP2):c.746T>A (p.Val249Asp)	GP2 (V102D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589116	NM_001502.4(GP2):c.736G>T (p.Gly246Trp)	GP2 (G102W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282004	NM_001502.4(GP2):c.735G>C (p.Leu245Phe)	GP2 (L245F +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3282002	NM_001502.4(GP2):c.664C>T (p.Pro222Ser)	GP2 (P225S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523736	NM_001502.4(GP2):c.603C>A (p.Asn201Lys)	GP2 (N54K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101056	NM_001502.4(GP2):c.577C>T (p.Pro193Ser)	GP2 (P193S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101055	NM_001502.4(GP2):c.508C>T (p.Pro170Ser)	GP2 (P170S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282001	NM_001502.4(GP2):c.493C>T (p.Arg165Trp)	GP2 (R165W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288812	NM_001502.4(GP2):c.461T>C (p.Val154Ala)	GP2 (V154A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241696	NM_001502.4(GP2):c.395T>C (p.Ile132Thr)	GP2 (I132T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101054	NM_001502.4(GP2):c.382C>T (p.Leu128Phe)	GP2 (L128F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486404	NM_001502.4(GP2):c.357G>A (p.Met119Ile)	GP2 (M119I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101052	NM_001502.4(GP2):c.335G>A (p.Arg112Gln)	GP2 (R112Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776987	NM_001502.4(GP2):c.312G>A (p.Ser104=)	GP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3282003	NM_001502.4(GP2):c.311C>T (p.Ser104Leu)	GP2 (S104L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101051	NM_001502.4(GP2):c.305G>A (p.Arg102Lys)	GP2 (R102K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603561	NM_001502.4(GP2):c.256G>A (p.Asp86Asn)	GP2 (D86N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306296	NM_001502.4(GP2):c.148G>A (p.Ala50Thr)	GP2 (A50T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101045	NM_001502.4(GP2):c.110T>C (p.Ile37Thr)	GP2 (I37T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2275426	NM_001502.4(GP2):c.95G>A (p.Gly32Asp)	GP2 (G32D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295771	NM_001502.4(GP2):c.49G>T (p.Ala17Ser)	GP2 (A17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1526505	GRCh37/hg19 16p12.3-12.2(chr16:20258837-21405328)	ERI2, GP2 +15 more	Copy number gain	not specified	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 59