ClinVar for Gene (Select 6615) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321092	NM_005985.4(SNAI1):c.304C>T (p.Pro102Ser)	SNAI1 (P102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321091	NM_005985.4(SNAI1):c.374C>T (p.Ala125Val)	SNAI1 (A125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166837	NM_005985.4(SNAI1):c.764A>T (p.Gln255Leu)	SNAI1 (Q255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166836	NM_005985.4(SNAI1):c.341C>T (p.Ser114Phe)	SNAI1 (S114F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166835	NM_005985.4(SNAI1):c.253G>A (p.Val85Met)	SNAI1 (V85M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556895	NM_005985.4(SNAI1):c.365A>G (p.Glu122Gly)	SNAI1 (E122G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489292	NM_005985.4(SNAI1):c.520C>G (p.Arg174Gly)	SNAI1 (R174G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807864	GRCh37/hg19 20q13.13(chr20:48352572-48766664)x3	PEDS1, PEDS1-UBE2V1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 769095	NM_005985.4(SNAI1):c.197C>T (p.Ala66Val)	SNAI1 (A66V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 560064	Single allele	ADNP, ARFGEF2 +27 more	Duplication	not provided	GUncertain significance
Select item 443773	GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1	ADNP, ARFGEF2 +28 more	Copy number loss	See cases	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442502	GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1	SPATA2, STAU1 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 187826	GRCh37/hg19 20q13.13-13.2(chr20:47682662-49884981)x1	KCNG1, SPATA2 +22 more	Copy number loss	See cases	GLikely pathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59219	GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	ADNP, ADNP-AS1 +199 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 58973	GRCh38/hg38 20q13.13-13.2(chr20:49731076-51202566)x1	ADNP, ADNP-AS1 +124 more	Copy number loss	See cases	GPathogenic