ClinVar for Gene (Select 646424) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322253	NM_001080525.3(SPINK8):c.250C>T (p.Leu84Phe)	SPINK8 (L84F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247055	NC_000003.11:g.(?_47894522)_(49060605_?)del	ARIH2, ARIH2OS +29 more	Deletion	not provided	GUncertain significance
Select item 3169159	NM_001080525.3(SPINK8):c.256A>G (p.Ile86Val)	SPINK8 (I86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169158	NM_001080525.3(SPINK8):c.199G>T (p.Val67Phe)	SPINK8 (V67F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169157	NM_001080525.3(SPINK8):c.173G>A (p.Ser58Asn)	SPINK8 (S58N)	Single nucleotide variant (missense variant)	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 2464031	NM_001080525.3(SPINK8):c.199G>A (p.Val67Ile)	SPINK8 (V67I)	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 2299274	NM_001080525.3(SPINK8):c.10A>T (p.Ile4Phe)	SPINK8 (I4F)	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 814442	GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	PRKAR2A, ATRIP +42 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