ClinVar for Gene (Select 10201) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247055	NC_000003.11:g.(?_47894522)_(49060605_?)del	ARIH2, ARIH2OS +29 more	Deletion	not provided	GUncertain significance
Select item 3200808	NM_001308426.2(NME6):c.553C>T (p.Pro185Ser)	NME6 (P118S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200807	NM_001308426.2(NME6):c.245G>T (p.Arg82Leu)	NME6 (E77* +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200806	NM_001308426.2(NME6):c.-5G>C	NME6 (S7T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2685919	GRCh37/hg19 3p21.31(chr3:48115216-48391839)x3	CAMP, CDC25A +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685917	GRCh37/hg19 3p21.31(chr3:47720958-48490193)x3	ATRIP, CAMP +11 more	Copy number gain	not provided	GUncertain significance
Select item 2509982	NM_001308426.2(NME6):c.134G>A (p.Arg45Gln)	NME6 (R45Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489331	NM_001308426.2(NME6):c.497T>C (p.Val166Ala)	NME6 (C153R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489223	NM_001308426.2(NME6):c.308G>C (p.Arg103Thr)	NME6 (R111T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478875	NM_001308426.2(NME6):c.503A>G (p.Tyr168Cys)	NME6 (I155V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2385928	NM_001308426.2(NME6):c.454C>T (p.Arg152Cys)	NME6 (R160C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269498	NM_001308426.2(NME6):c.361C>T (p.Leu121Phe)	NME6 (L121F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255861	NM_001308426.2(NME6):c.506G>T (p.Ser169Ile)	NME6 (A156S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527016	GRCh37/hg19 3p21.31(chr3:48322672-48381992)	NME6, SPINK8	Copy number loss	not specified	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 687533	GRCh37/hg19 3p21.31(chr3:47799614-48359988)x3	CAMP, CDC25A +6 more	Copy number gain	not provided	GUncertain significance
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
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 22