ClinVar for Gene (Select 147011) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3219000	NM_001366301.1(PROCA1):c.931G>A (p.Gly311Ser)	PROCA1 (G257S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218999	NM_001366301.1(PROCA1):c.79A>G (p.Ser27Gly)	PROCA1 (S27G)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3218998	NM_001366301.1(PROCA1):c.808C>G (p.Pro270Ala)	PROCA1 (P170A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218996	NM_001366301.1(PROCA1):c.671C>G (p.Thr224Arg)	PROCA1 (T198R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218995	NM_001366301.1(PROCA1):c.661G>A (p.Glu221Lys)	PROCA1 (E121K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218994	NM_001366301.1(PROCA1):c.26T>C (p.Ile9Thr)	PROCA1 (I9T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3218993	NM_001366301.1(PROCA1):c.347G>A (p.Arg116Gln)	PROCA1 (R116Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3218992	NM_001366301.1(PROCA1):c.263G>A (p.Arg88His)	PROCA1 (R51H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3218991	NM_001366301.1(PROCA1):c.253G>A (p.Asp85Asn)	PROCA1 (D59N +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3218990	NM_001366301.1(PROCA1):c.247G>A (p.Ala83Thr)	PROCA1 (A83T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2621724	NM_001366301.1(PROCA1):c.242C>G (p.Pro81Arg)	PROCA1 (P27R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2614772	NM_001366301.1(PROCA1):c.934C>G (p.Arg312Gly)	PROCA1 (R168G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614771	NM_001366301.1(PROCA1):c.838G>A (p.Val280Met)	PROCA1 (V136M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612505	NM_001366301.1(PROCA1):c.54G>T (p.Glu18Asp)	PROCA1 (E18D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2606758	NM_001366301.1(PROCA1):c.802A>G (p.Lys268Glu)	PROCA1 (K240E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2526932	NM_001366301.1(PROCA1):c.362C>T (p.Thr121Ile)	PROCA1 (T67I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525730	NM_001366301.1(PROCA1):c.262C>T (p.Arg88Cys)	PROCA1 (R88C +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2485449	NM_001366301.1(PROCA1):c.1061A>G (p.Lys354Arg)	PROCA1 (K328R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483691	NM_001366301.1(PROCA1):c.302G>A (p.Cys101Tyr)	PROCA1 (C47Y +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483269	NM_001366301.1(PROCA1):c.365G>T (p.Cys122Phe)	PROCA1 (C85F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470475	NM_001366301.1(PROCA1):c.425G>A (p.Arg142Gln)	PROCA1 (R42Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466034	NM_001366301.1(PROCA1):c.62C>T (p.Ala21Val)	PROCA1 (A21V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2425303	NC_000017.10:g.(?_26684694)_(27581367_?)dup	RAB34, RPL23A +29 more	Duplication	not provided	GUncertain significance
Select item 2412317	NM_001366301.1(PROCA1):c.767A>C (p.Lys256Thr)	PROCA1 (K202T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408250	NM_001366301.1(PROCA1):c.563C>T (p.Pro188Leu)	PROCA1 (P134L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381253	NM_001366301.1(PROCA1):c.409G>A (p.Glu137Lys)	PROCA1 (E100K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380603	NM_001366301.1(PROCA1):c.620G>A (p.Gly207Asp)	PROCA1 (G153D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344902	NM_001366301.1(PROCA1):c.525A>C (p.Glu175Asp)	PROCA1 (E147D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344483	NM_001366301.1(PROCA1):c.353C>T (p.Ala118Val)	PROCA1 (A90V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2344140	NM_001366301.1(PROCA1):c.965T>C (p.Ile322Thr)	PROCA1 (I294T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336377	NM_001366301.1(PROCA1):c.1070C>A (p.Pro357Gln)	PROCA1 (P329Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258857	NM_001366301.1(PROCA1):c.908T>G (p.Leu303Arg)	PROCA1 (L266R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241295	NM_001366301.1(PROCA1):c.290A>G (p.Asn97Ser)	PROCA1 (N43S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2214894	NM_001366301.1(PROCA1):c.571G>A (p.Val191Met)	PROCA1 (V163M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 791343	NM_001366301.1(PROCA1):c.726A>G (p.Lys242=)	PROCA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787447	NM_001366301.1(PROCA1):c.601G>A (p.Gly201Ser)	PROCA1 (G201S +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 750786	NM_001366301.1(PROCA1):c.978A>C (p.Ser326=)	PROCA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721035	NM_001366301.1(PROCA1):c.1041dup (p.Arg348fs)	PROCA1 (R311fs +6 more)	Duplication (frameshift variant)	not provided	GBenign
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	ALDOC, BLTP2 +88 more	Copy number gain	See cases	GBenign

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Links from Gene

Items: 48