2326[HGNC] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
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 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +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 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC129933017, LOC129933018 +237 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 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 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	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 151155	GRCh38/hg38 2p25.1(chr2:8397352-9440634)x4	ASAP2, CPSF3 +49 more	Copy number gain	See cases	GUncertain significance
Select item 3269277	NM_016207.4(CPSF3):c.16G>T (p.Ala6Ser)	CPSF3, LOC129933052 (A6S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3065931	NM_016207.4(CPSF3):c.86T>C (p.Ile29Thr)	CPSF3 (I29T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures	GUncertain significance
Select item 3269279	NM_016207.4(CPSF3):c.419T>C (p.Phe140Ser)	CPSF3 (F144S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076893	NM_016207.4(CPSF3):c.500T>C (p.Ile167Thr)	CPSF3 (I167T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2691767	NM_016207.4(CPSF3):c.653G>A (p.Arg218Gln)	CPSF3 (R181Q +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures	GUncertain significance
Select item 2607754	NM_016207.4(CPSF3):c.1037C>T (p.Thr346Ile)	CPSF3 (T207I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686867	NM_016207.4(CPSF3):c.1061T>C (p.Ile354Thr)	CPSF3 (I354T +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	GPathogenic
Select item 3076890	NM_016207.4(CPSF3):c.1099A>G (p.Ile367Val)	CPSF3 (I330V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281969	NM_016207.4(CPSF3):c.1160C>T (p.Ser387Phe)	CPSF3 (S387F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330904	NM_016207.4(CPSF3):c.1200G>C (p.Gln400His)	CPSF3 (Q261H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068447	Single allele	ADAM17, CPSF3 +2 more	Deletion	Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures	GPathogenic
Select item 2542844	NM_016207.4(CPSF3):c.1292T>C (p.Leu431Pro)	CPSF3 (L435P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686866	NM_016207.4(CPSF3):c.1403G>A (p.Gly468Glu)	CPSF3 (G468E +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	GPathogenic
Select item 2650663	NM_016207.4(CPSF3):c.1418A>G (p.Lys473Arg)	CPSF3 (K334R +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3269278	NM_016207.4(CPSF3):c.1438C>T (p.Arg480Trp)	CPSF3 (R341W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311511	NM_016207.4(CPSF3):c.1439G>A (p.Arg480Gln)	CPSF3 (R341Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650664	NM_016207.4(CPSF3):c.1539G>A (p.Gln513=)	CPSF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3076891	NM_016207.4(CPSF3):c.1801G>A (p.Val601Ile)	CPSF3 (V601I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076892	NM_016207.4(CPSF3):c.1846A>T (p.Ile616Phe)	CPSF3 (I477F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367837	NM_016207.4(CPSF3):c.1909G>A (p.Val637Ile)	CPSF3 (V600I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364485	NM_016207.4(CPSF3):c.1934A>G (p.Asn645Ser)	CPSF3 (N608S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380661	NM_016207.4(CPSF3):c.1951C>T (p.Arg651Trp)	CPSF3 (R614W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650665	NM_016207.4(CPSF3):c.1995C>G (p.Leu665=)	CPSF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691768	Single allele	CPSF3, LOC105373418 +23 more	Deletion	Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures	GUncertain significance
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 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 2426589	NC_000002.11:g.(?_7968276)_(10192634_?)dup	ADAM17, ASAP2 +10 more	Duplication	not provided	GUncertain significance
Select item 2426587	NC_000002.11:g.(?_7968276)_(10192634_?)del	ADAM17, ASAP2 +10 more	Deletion	not provided	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 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
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 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

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Items: 47