11701[HGNC] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 1228609	NM_001174136.2(CRIPTO):c.-13-1825A>C	CRIPTO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253902	NM_003212.3(CRIPTO):c.-222T>A	CRIPTO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3269533	NM_003212.4(CRIPTO):c.23G>A (p.Arg8His)	CRIPTO (R8H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1233338	NM_003212.4(CRIPTO):c.35+38C>T	CRIPTO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317677	NM_003212.4(CRIPTO):c.35+60G>A	CRIPTO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316201	NM_003212.4(CRIPTO):c.35+121C>G	CRIPTO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317567	NM_003212.4(CRIPTO):c.35+279G>A	CRIPTO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281997	NM_003212.4(CRIPTO):c.36-311T>A	CRIPTO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316200	NM_003212.4(CRIPTO):c.36-67T>C	CRIPTO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316126	NM_003212.4(CRIPTO):c.36-23C>T	CRIPTO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3235395	NM_003212.4(CRIPTO):c.45G>T (p.Trp15Cys)	CRIPTO (W15C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2471094	NM_003212.4(CRIPTO):c.55A>T (p.Ile19Phe)	CRIPTO (I3F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1275194	NM_003212.4(CRIPTO):c.65T>C (p.Val22Ala)	CRIPTO (V22A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773180	NM_003212.4(CRIPTO):c.88+8A>G	CRIPTO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2633749	NM_003212.4(CRIPTO):c.115C>A (p.Pro39Thr)	CRIPTO (P23T +1 more)	Single nucleotide variant (missense variant)	CRIPTO-related disorder	GUncertain significance
Select item 2296700	NM_003212.4(CRIPTO):c.122G>A (p.Arg41Gln)	CRIPTO (R41Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1280750	NM_003212.4(CRIPTO):c.127T>G (p.Tyr43Asp)	CRIPTO (Y27D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3235390	NM_003212.4(CRIPTO):c.142G>A (p.Asp48Asn)	CRIPTO (D32N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1231198	NM_003212.4(CRIPTO):c.168G>A (p.Glu56=)	CRIPTO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3235391	NM_003212.4(CRIPTO):c.179G>A (p.Arg60Gln)	CRIPTO (R44Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505187	NM_003212.4(CRIPTO):c.185G>C (p.Arg62Pro)	CRIPTO (R46P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1237964	NM_003212.4(CRIPTO):c.223+43T>A	CRIPTO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316199	NM_003212.4(CRIPTO):c.223+105T>G	CRIPTO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317965	NM_003212.4(CRIPTO):c.224-172A>G	CRIPTO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316197	NM_003212.4(CRIPTO):c.224-112A>G	CRIPTO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270316	NM_003212.4(CRIPTO):c.224-106A>T	CRIPTO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231956	NM_003212.4(CRIPTO):c.224-14T>C	CRIPTO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3269534	NM_003212.4(CRIPTO):c.269T>G (p.Met90Arg)	CRIPTO (M90R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235392	NM_003212.4(CRIPTO):c.292C>G (p.Pro98Ala)	CRIPTO (P82A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779871	NM_003212.4(CRIPTO):c.294T>G (p.Pro98=)	CRIPTO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3235393	NM_003212.4(CRIPTO):c.307G>A (p.Gly103Arg)	CRIPTO (G103R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 618419	NM_003212.4(CRIPTO):c.325G>C (p.Asp109His)	CRIPTO (D109H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 778070	NM_003212.4(CRIPTO):c.331C>G (p.Arg111Gly)	CRIPTO (R95G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1317745	NM_003212.4(CRIPTO):c.338+11C>T	CRIPTO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 778071	NM_003212.4(CRIPTO):c.339-8A>G	CRIPTO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318032	NM_003212.4(CRIPTO):c.348G>T (p.Gly116=)	CRIPTO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1049592	NM_003212.4(CRIPTO):c.360T>G (p.His120Gln)	CRIPTO (H104Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 12728	NM_003212.4(CRIPTO):c.374C>T (p.Pro125Leu)	CRIPTO (P125L +1 more)	Single nucleotide variant (missense variant)	Forebrain defects	GUncertain significance
Select item 2478303	NM_003212.4(CRIPTO):c.425C>T (p.Pro142Leu)	CRIPTO (P142L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1316807	NM_003212.4(CRIPTO):c.448+103G>T	CRIPTO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316198	NM_003212.4(CRIPTO):c.448+243G>A	CRIPTO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228076	NM_003212.4(CRIPTO):c.449-165G>A	CRIPTO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3269535	NM_003212.4(CRIPTO):c.452G>A (p.Gly151Asp)	CRIPTO (G151D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713454	NM_003212.4(CRIPTO):c.453C>G (p.Gly151=)	CRIPTO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1318194	NM_003212.4(CRIPTO):c.456T>C (p.Leu152=)	CRIPTO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3235396	NM_003212.4(CRIPTO):c.512G>A (p.Arg171His)	CRIPTO (R155H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235397	NM_003212.4(CRIPTO):c.563A>G (p.Tyr188Cys)	CRIPTO (Y172C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1317946	NM_003212.4(CRIPTO):c.*206T>A	CRIPTO	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1318066	NM_003212.4(CRIPTO):c.*252C>T	CRIPTO	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1228755	NM_003212.4(CRIPTO):c.*277del	CRIPTO	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	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 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 57