ClinVar for Gene (Select 152098) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334183	NM_001040432.4(ZCWPW2):c.152A>G (p.Lys51Arg)	ZCWPW2 (K51R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334182	NM_001040432.4(ZCWPW2):c.775G>C (p.Glu259Gln)	ZCWPW2 (E259Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334181	NM_001040432.4(ZCWPW2):c.1009G>C (p.Glu337Gln)	ZCWPW2 (E337Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334179	NM_001040432.4(ZCWPW2):c.803T>C (p.Val268Ala)	ZCWPW2 (V206A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334178	NM_001040432.4(ZCWPW2):c.359G>A (p.Arg120His)	ZCWPW2 (R120H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3192591	NM_001040432.4(ZCWPW2):c.687G>C (p.Lys229Asn)	ZCWPW2 (R190T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192590	NM_001040432.4(ZCWPW2):c.505A>C (p.Lys169Gln)	ZCWPW2 (K169Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192589	NM_001040432.4(ZCWPW2):c.413A>G (p.His138Arg)	ZCWPW2 (H138R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192588	NM_001040432.4(ZCWPW2):c.406G>C (p.Glu136Gln)	ZCWPW2 (E136Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3192587	NM_001040432.4(ZCWPW2):c.145T>A (p.Ser49Thr)	ZCWPW2 (S49T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685909	GRCh37/hg19 3p24.1(chr3:27922746-29158022)x3	AZI2, CMC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685076	GRCh37/hg19 3p24.1(chr3:28319406-28452165)x1	AZI2, CMC1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2623129	NM_001040432.4(ZCWPW2):c.548G>T (p.Cys183Phe)	ZCWPW2 (C183F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608385	NM_001040432.4(ZCWPW2):c.737C>G (p.Ser246Cys)	ZCWPW2 (S246C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2591253	NM_001040432.4(ZCWPW2):c.257A>G (p.Gln86Arg)	ZCWPW2 (Q86R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589403	NM_001040432.4(ZCWPW2):c.215C>T (p.Ser72Leu)	ZCWPW2 (S72L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561360	NM_001040432.4(ZCWPW2):c.797C>T (p.Thr266Met)	ZCWPW2 (T204M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560141	NM_001040432.4(ZCWPW2):c.611A>G (p.Asp204Gly)	ZCWPW2 (I165V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528663	NM_001040432.4(ZCWPW2):c.787G>A (p.Val263Ile)	ZCWPW2 (V201I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471278	NM_001040432.4(ZCWPW2):c.510T>G (p.Asn170Lys)	ZCWPW2 (N170K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2411889	NM_001040432.4(ZCWPW2):c.557A>G (p.Tyr186Cys)	ZCWPW2 (Y186C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387083	NM_001040432.4(ZCWPW2):c.491A>G (p.Lys164Arg)	ZCWPW2 (K164R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323280	NM_001040432.4(ZCWPW2):c.691A>C (p.Lys231Gln)	ZCWPW2 (K231Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317421	NM_001040432.4(ZCWPW2):c.977T>C (p.Leu326Pro)	ZCWPW2 (L326P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275567	NM_001040432.4(ZCWPW2):c.209A>G (p.Asn70Ser)	ZCWPW2 (N70S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251661	NM_001040432.4(ZCWPW2):c.8A>C (p.Lys3Thr)	ZCWPW2 (K3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231587	NM_001040432.4(ZCWPW2):c.200G>C (p.Arg67Thr)	ZCWPW2 (R67T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527003	GRCh37/hg19 3p24.1(chr3:27922745-29160209)	AZI2, CMC1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527002	GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)	AZI2, CMC1 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 1340459	GRCh37/hg19 3p24.1(chr3:28021987-28927589)x3	AZI2, CMC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814430	GRCh37/hg19 3p24.2-24.1(chr3:25901794-29520717)x1	AZI2, EOMES +6 more	Copy number loss	not provided	GUncertain significance
Select item 688075	GRCh37/hg19 3p24.1(chr3:28076848-28660659)x3	AZI2, CMC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 150437	GRCh38/hg38 3p24.1(chr3:28103194-29104771)x3	AZI2, CMC1 +11 more	Copy number gain	See cases	GLikely benign
Select item 150118	GRCh38/hg38 3p24.1(chr3:28426784-29104789)x3	LINC00693, LOC126806638 +3 more	Copy number gain	See cases	GUncertain significance
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 47