ClinVar for Gene (Select 55854) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3192330	NM_018471.3(ZC3H15):c.660T>A (p.Asp220Glu)	ZC3H15 (D220E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192329	NM_018471.3(ZC3H15):c.1234T>A (p.Leu412Met)	ZC3H15 (L412M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192328	NM_018471.3(ZC3H15):c.1175C>T (p.Thr392Met)	ZC3H15 (T392M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192327	NM_018471.3(ZC3H15):c.1162G>A (p.Glu388Lys)	ZC3H15 (E388K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685869	GRCh37/hg19 2q32.1(chr2:186712840-187407719)x3	ZC3H15	Copy number gain	not provided	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2409200	NM_018471.3(ZC3H15):c.131A>G (p.Lys44Arg)	ZC3H15 (K44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388130	NM_018471.3(ZC3H15):c.169C>G (p.Pro57Ala)	ZC3H15 (P57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361149	NM_018471.3(ZC3H15):c.646G>T (p.Val216Leu)	ZC3H15 (V216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340790	NM_018471.3(ZC3H15):c.637C>G (p.Pro213Ala)	ZC3H15 (P213A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335947	NM_018471.3(ZC3H15):c.847G>A (p.Ala283Thr)	ZC3H15 (A283T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271403	NM_018471.3(ZC3H15):c.351T>G (p.Asp117Glu)	ZC3H15 (D117E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235291	NM_018471.3(ZC3H15):c.893G>A (p.Arg298His)	ZC3H15 (R298H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210838	NM_018471.3(ZC3H15):c.439A>G (p.Lys147Glu)	ZC3H15 (K147E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
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 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 973060	GRCh37/hg19 2q32.1(chr2:183764930-187399282)x1	DUSP19, FSIP2 +4 more	Copy number loss	not provided	Gnot provided
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 687001	GRCh37/hg19 2q32.1(chr2:186234826-188972311)x3	CALCRL, FAM171B +5 more	Copy number gain	not provided	GUncertain significance
Select item 685156	GRCh37/hg19 2q32.1(chr2:186861444-188658263)x1	CALCRL, FAM171B +4 more	Copy number loss	not provided	GUncertain significance
Select item 635896	Single allele	CALCRL, FAM171B +5 more	Deletion	Neurodevelopmental disorder	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 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 148022	GRCh38/hg38 2q31.3-32.1(chr2:180942902-187372388)x1	CALCRL, CALCRL-AS1 +88 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 40