CYS1[gene] - ClinVar

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

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129932995, LOC129932996 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	LOC129933180, LOC129933181 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	ACP1, ADAM17 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 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
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 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 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	LOC126806154, LOC126806155 +546 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 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 2230052	NM_001037160.3(CYS1):c.457G>C (p.Glu153Gln)	CYS1 (E153Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349025	NM_001037160.3(CYS1):c.449C>T (p.Ala150Val)	CYS1 (A150V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608092	NM_001037160.3(CYS1):c.421T>G (p.Tyr141Asp)	CYS1 (Y141D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 754055	NM_001037160.3(CYS1):c.399dup (p.Glu134fs)	CYS1 (E134fs)	Duplication (frameshift variant)	not provided	GBenign
Select item 2239343	NM_001037160.3(CYS1):c.346C>T (p.His116Tyr)	CYS1 (H116Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595062	NM_001037160.3(CYS1):c.340G>C (p.Glu114Gln)	CYS1 (E114Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401027	NM_001037160.3(CYS1):c.325G>A (p.Ala109Thr)	CYS1 (A109T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2341872	NM_001037160.3(CYS1):c.275G>C (p.Arg92Pro)	CYS1 (R92P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211100	NM_001037160.3(CYS1):c.271C>T (p.Pro91Ser)	CYS1 (P91S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557757	NM_001037160.3(CYS1):c.256C>T (p.Pro86Ser)	CYS1, LOC129933088 (P86S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232856	NM_001037160.3(CYS1):c.241T>G (p.Ser81Ala)	CYS1, LOC129933088 (S81A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341871	NM_001037160.3(CYS1):c.215G>T (p.Arg72Leu)	CYS1, LOC129933088 (R72L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459797	NM_001037160.3(CYS1):c.196G>A (p.Gly66Ser)	CYS1, LOC129933088 (G66S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545555	NM_001037160.3(CYS1):c.187C>A (p.Pro63Thr)	CYS1, LOC129933088 (P63T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405743	NM_001037160.3(CYS1):c.170A>C (p.Asp57Ala)	CYS1, LOC129933088 (D57A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312208	NM_001037160.3(CYS1):c.163G>T (p.Gly55Cys)	CYS1, LOC129933088 (G55C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600267	NM_001037160.3(CYS1):c.161C>G (p.Pro54Arg)	LOC129933088, CYS1 (P54R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357493	NM_001037160.3(CYS1):c.158C>T (p.Ala53Val)	CYS1, LOC129933088 (A53V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524800	NM_001037160.3(CYS1):c.155A>C (p.Glu52Ala)	CYS1, LOC129933088 (E52A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373526	NM_001037160.3(CYS1):c.110G>A (p.Arg37Gln)	CYS1, LOC129933088 (R37Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353420	NM_001037160.3(CYS1):c.80C>A (p.Ala27Glu)	CYS1, LOC129933088 (A27E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522695	NM_001037160.3(CYS1):c.53_66del (p.Pro18fs)	CYS1, LOC129933088 (P18fs)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 2468095	NM_001037160.3(CYS1):c.53C>T (p.Pro18Leu)	CYS1, LOC129933088 (P18L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381062	NM_001037160.3(CYS1):c.37A>G (p.Arg13Gly)	CYS1, LOC129933088 (R13G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541511	NM_001037160.3(CYS1):c.35_36del (p.Leu12fs)	CYS1, LOC129933088 (L12fs)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 2528787	NM_001037160.3(CYS1):c.28C>G (p.Arg10Gly)	CYS1 (R10G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342644	NM_001037160.3(CYS1):c.25A>G (p.Ser9Gly)	CYS1 (S9G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 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 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)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 49