9419[geneid] - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 153532	GRCh38/hg38 2p21-16.3(chr2:46415109-48203207)x3	LOC129933708, LOC129933709 +104 more	Copy number gain	See cases	GUncertain significance
Select item 154531	GRCh38/hg38 2p21(chr2:46573689-46732838)x3	CRIPT, LOC129933670 +8 more	Copy number gain	See cases	GBenign
Select item 148501	GRCh38/hg38 2p21(chr2:46592232-47488001)x3	BCYRN1, CALM2 +53 more	Copy number gain	See cases	GLikely benign
Select item 221619	NM_014171.5(CRIPT):c.-422_17-582del	PIGF, CRIPT	Deletion	Rothmund-Thomson syndrome, type 3	GPathogenic
Select item 1250607	NC_000002.12:g.46616943_46616944insG	CRIPT, PIGF	Insertion (intron variant)	not provided	GBenign
Select item 1240553	NC_000002.12:g.46617081dup	CRIPT	Duplication	not provided	GBenign
Select item 1251822	NC_000002.12:g.46617108G>T	CRIPT	Single nucleotide variant	not provided	GBenign
Select item 1343340	NM_014171.6(CRIPT):c.7_8del (p.Cys3fs)	CRIPT (C3fs)	Microsatellite (frameshift variant)	Rothmund-Thomson syndrome, type 3	GPathogenic
Select item 221618	NM_014171.6(CRIPT):c.8G>A (p.Cys3Tyr)	CRIPT (C3Y)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome, type 3	GLikely pathogenic
Select item 2681213	NM_014171.6(CRIPT):c.13A>G (p.Lys5Glu)	CRIPT (K5E)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 1260906	NM_014171.6(CRIPT):c.16+179T>C	CRIPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226796	NM_014171.6(CRIPT):c.16+220C>G	CRIPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259318	NM_014171.6(CRIPT):c.17-63A>G	CRIPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2109718	NM_014171.6(CRIPT):c.17-15A>G	CRIPT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2100126	NM_014171.6(CRIPT):c.29T>C (p.Leu10Pro)	CRIPT (L10P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095880	NM_014171.6(CRIPT):c.46C>G (p.Pro16Ala)	CRIPT (P16A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869997	NM_014171.6(CRIPT):c.69T>C (p.Ala23=)	CRIPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2104700	NM_014171.6(CRIPT):c.71G>A (p.Arg24Lys)	CRIPT (R24K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054152	NM_014171.6(CRIPT):c.78C>T (p.Thr26=)	CRIPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1997112	NM_014171.6(CRIPT):c.82+1G>A	CRIPT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2871539	NM_014171.6(CRIPT):c.83-10_83-5del	CRIPT	Deletion (intron variant)	not provided	GLikely benign
Select item 2791298	NM_014171.6(CRIPT):c.83-4dup	CRIPT	Duplication (intron variant)	not provided	GLikely benign
Select item 2150415	NM_014171.6(CRIPT):c.83-1G>A	CRIPT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2178264	NM_014171.6(CRIPT):c.87T>C (p.Ser29=)	CRIPT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2356474	NM_014171.6(CRIPT):c.89G>C (p.Gly30Ala)	CRIPT (G30A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2012836	NM_014171.6(CRIPT):c.104A>G (p.Asn35Ser)	CRIPT (N35S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971820	NM_014171.6(CRIPT):c.132dup (p.Ala45fs)	CRIPT (A45fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 976761	NM_014171.6(CRIPT):c.132del (p.Ala45fs)	CRIPT (A45fs)	Deletion (frameshift variant)	Rothmund-Thomson syndrome, type 3	GPathogenic
Select item 127249	NM_014171.6(CRIPT):c.133_134insGG (p.Ala45fs)	CRIPT (A45fs)	Insertion (frameshift variant)	Rothmund-Thomson syndrome, type 3 +1 more	GPathogenic
Select item 2427949	NM_014171.6(CRIPT):c.133G>C (p.Ala45Pro)	CRIPT (A45P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072323	NM_014171.6(CRIPT):c.133G>A (p.Ala45Thr)	CRIPT (A45T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970944	NM_014171.6(CRIPT):c.137+20G>A	CRIPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229484	NM_014171.6(CRIPT):c.138-332G>A	CRIPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2040545	NM_014171.6(CRIPT):c.138-16T>G	CRIPT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110092	NM_014171.6(CRIPT):c.138-15A>G	CRIPT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1582628	NM_014171.6(CRIPT):c.138-11_138-8del	CRIPT	Deletion (intron variant)	not provided	GLikely benign
Select item 2695988	NM_014171.6(CRIPT):c.138-12A>C	CRIPT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2006226	NM_014171.6(CRIPT):c.138-9A>C	CRIPT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 775712	NM_014171.6(CRIPT):c.138-5del	CRIPT	Deletion (intron variant)	not provided +1 more	GBenign
Select item 2961181	NM_014171.6(CRIPT):c.138-4C>G	CRIPT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 728726	NM_014171.6(CRIPT):c.138-4C>A	CRIPT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 127250	NM_014171.6(CRIPT):c.141del (p.Phe47fs)	CRIPT (F47fs)	Deletion (frameshift variant)	Ateleiotic dwarfism +1 more	GPathogenic
Select item 2524362	NM_014171.6(CRIPT):c.146C>G (p.Pro49Arg)	CRIPT (P49R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077478	NM_014171.6(CRIPT):c.149A>G (p.Tyr50Cys)	CRIPT (Y50C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1445347	NM_014171.6(CRIPT):c.150T>A (p.Tyr50Ter)	CRIPT (Y50*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2326374	NM_014171.6(CRIPT):c.156G>T (p.Lys52Asn)	CRIPT (K52N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2049168	NM_014171.6(CRIPT):c.168C>T (p.Ser56=)	CRIPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2476166	NM_014171.6(CRIPT):c.175A>G (p.Arg59Gly)	CRIPT (R59G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2096544	NM_014171.6(CRIPT):c.196C>T (p.His66Tyr)	CRIPT (H66Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071948	NM_014171.6(CRIPT):c.216C>T (p.Tyr72=)	CRIPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2091399	NM_014171.6(CRIPT):c.221A>G (p.Gln74Arg)	CRIPT (Q74R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3233412	NM_014171.6(CRIPT):c.227G>A (p.Cys76Tyr)	CRIPT (C76Y)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome, type 3	GPathogenic
Select item 748435	NM_014171.6(CRIPT):c.228T>C (p.Cys76=)	CRIPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729666	NM_014171.6(CRIPT):c.241+7T>C	CRIPT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899774	NM_014171.6(CRIPT):c.241+9C>T	CRIPT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539635	NM_014171.6(CRIPT):c.241+19C>T	CRIPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183219	NM_014171.6(CRIPT):c.241+20G>A	CRIPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280028	NM_014171.6(CRIPT):c.242-120T>A	CRIPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270681	NM_014171.6(CRIPT):c.242-119T>A	CRIPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1029251	NM_014171.6(CRIPT):c.242-19A>T	CRIPT	Single nucleotide variant (intron variant)	Rothmund-Thomson syndrome, type 3	GUncertain significance
Select item 2842634	NM_014171.6(CRIPT):c.242-15_242-14del	CRIPT	Deletion (intron variant)	not provided	GLikely benign
Select item 2101605	NM_014171.6(CRIPT):c.242-12_242-10del	CRIPT	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2056934	NM_014171.6(CRIPT):c.242-11T>A	CRIPT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2123596	NM_014171.6(CRIPT):c.242G>T (p.Gly81Val)	CRIPT (G81V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2378145	NM_014171.6(CRIPT):c.244A>G (p.Ile82Val)	CRIPT (I82V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2098942	NM_014171.6(CRIPT):c.248G>T (p.Cys83Phe)	CRIPT (C83F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2546471	NM_014171.6(CRIPT):c.251C>T (p.Ala84Val)	CRIPT (A84V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1916748	NM_014171.6(CRIPT):c.252G>A (p.Ala84=)	CRIPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2350347	NM_014171.6(CRIPT):c.254T>C (p.Met85Thr)	CRIPT (M85T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184694	NM_014171.6(CRIPT):c.257G>T (p.Cys86Phe)	CRIPT (C86F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2607520	NM_014171.6(CRIPT):c.263A>G (p.Lys88Arg)	CRIPT (K88R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2632905	NM_014171.6(CRIPT):c.275A>G (p.Asp92Gly)	CRIPT (D92G)	Single nucleotide variant (missense variant)	CRIPT-related disorder	GUncertain significance
Select item 2098758	NM_014171.6(CRIPT):c.283A>C (p.Asn95His)	CRIPT (N95H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353895	NM_014171.6(CRIPT):c.297A>T (p.Thr99=)	CRIPT	Single nucleotide variant (synonymous variant)	CRIPT-related disorder	GLikely benign
Select item 2134437	NM_014171.6(CRIPT):c.297A>G (p.Thr99=)	CRIPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2425909	NC_000002.11:g.(?_46525051)_(46851366_?)dup	ATP6V1E2, CRIPT +4 more	Duplication	not provided	GUncertain significance
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	CAMKMT, CDKL4 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1704565	NC_000002.11:g.(?_46844310)_(46844438_46845911)del	CRIPT	Deletion	Rothmund-Thomson syndrome, type 3	GLikely pathogenic
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 814243	GRCh37/hg19 2p21(chr2:46179259-47646894)x3	TTC7A, ATP6V1E2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 625543	GRCh37/hg19 2p21(chr2:46844284-46844565)	CRIPT	Copy number loss	Rothmund-Thomson syndrome, type 3	GPathogenic
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 562630	GRCh37/hg19 2p21(chr2:46557702-47744377)x3	CALM2, ATP6V1E2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
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 429039	NC_000002.11:g.38121110_47669522inv	HNRNPLL, KCNG3 +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic

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Items: 92