ClinVar for Gene (Select 192668) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3079793	NM_001037160.3(CYS1):c.350C>T (p.Pro117Leu)	CYS1 (P117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079792	NM_001037160.3(CYS1):c.341A>G (p.Glu114Gly)	CYS1 (E114G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079791	NM_001037160.3(CYS1):c.248C>A (p.Ala83Asp)	CYS1, LOC129933088 (A83D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079790	NM_001037160.3(CYS1):c.196G>C (p.Gly66Arg)	CYS1, LOC129933088 (G66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 2608092	NM_001037160.3(CYS1):c.421T>G (p.Tyr141Asp)	CYS1 (Y141D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600267	NM_001037160.3(CYS1):c.161C>G (p.Pro54Arg)	CYS1, LOC129933088 (P54R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595062	NM_001037160.3(CYS1):c.340G>C (p.Glu114Gln)	CYS1 (E114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557757	NM_001037160.3(CYS1):c.256C>T (p.Pro86Ser)	CYS1, LOC129933088 (P86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545555	NM_001037160.3(CYS1):c.187C>A (p.Pro63Thr)	CYS1, LOC129933088 (P63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541511	NM_001037160.3(CYS1):c.35_36del (p.Leu12fs)	CYS1, LOC129933088 (L12fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2528787	NM_001037160.3(CYS1):c.28C>G (p.Arg10Gly)	CYS1 (R10G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524800	NM_001037160.3(CYS1):c.155A>C (p.Glu52Ala)	CYS1, LOC129933088 (E52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522695	NM_001037160.3(CYS1):c.53_66del (p.Pro18fs)	CYS1, LOC129933088 (P18fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2468095	NM_001037160.3(CYS1):c.53C>T (p.Pro18Leu)	CYS1, LOC129933088 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459797	NM_001037160.3(CYS1):c.196G>A (p.Gly66Ser)	CYS1, LOC129933088 (G66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405743	NM_001037160.3(CYS1):c.170A>C (p.Asp57Ala)	CYS1, LOC129933088 (D57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401027	NM_001037160.3(CYS1):c.325G>A (p.Ala109Thr)	CYS1 (A109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381062	NM_001037160.3(CYS1):c.37A>G (p.Arg13Gly)	CYS1, LOC129933088 (R13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373526	NM_001037160.3(CYS1):c.110G>A (p.Arg37Gln)	CYS1, LOC129933088 (R37Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357493	NM_001037160.3(CYS1):c.158C>T (p.Ala53Val)	CYS1, LOC129933088 (A53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353420	NM_001037160.3(CYS1):c.80C>A (p.Ala27Glu)	CYS1, LOC129933088 (A27E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349025	NM_001037160.3(CYS1):c.449C>T (p.Ala150Val)	CYS1 (A150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342644	NM_001037160.3(CYS1):c.25A>G (p.Ser9Gly)	CYS1 (S9G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341872	NM_001037160.3(CYS1):c.275G>C (p.Arg92Pro)	CYS1 (R92P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341871	NM_001037160.3(CYS1):c.215G>T (p.Arg72Leu)	CYS1, LOC129933088 (R72L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312208	NM_001037160.3(CYS1):c.163G>T (p.Gly55Cys)	CYS1, LOC129933088 (G55C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239343	NM_001037160.3(CYS1):c.346C>T (p.His116Tyr)	CYS1 (H116Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232856	NM_001037160.3(CYS1):c.241T>G (p.Ser81Ala)	CYS1, LOC129933088 (S81A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230052	NM_001037160.3(CYS1):c.457G>C (p.Glu153Gln)	CYS1 (E153Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211100	NM_001037160.3(CYS1):c.271C>T (p.Pro91Ser)	CYS1 (P91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1808012	GRCh37/hg19 2p25.1(chr2:10192689-10462223)x3	C2orf48, CYS1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1693276	NM_001037160.3(CYS1):c.318+5G>A	CYS1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease	GPathogenic
Select item 1340626	GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1	ATP6V1C2, C2orf48 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1340405	GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1	ADAM17, ASAP2 +29 more	Copy number loss	not provided	GUncertain significance
Select item 754055	NM_001037160.3(CYS1):c.399dup (p.Glu134fs)	CYS1 (E134fs)	Duplication (frameshift variant)	not provided	GBenign
Select item 562559	GRCh37/hg19 2p25.1(chr2:10192688-10462223)x3	C2orf48, CYS1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	ATAD2B, ATP6V1C2 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933312, LOC129933313 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 54