ClinVar for Gene (Select 93654) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322969	NM_001369598.1(ST7):c.450G>A (p.Arg150=)	ST7, ST7-AS2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3170710	NM_001369598.1(ST7):c.932G>A (p.Arg311Lys)	ST7, ST7-AS2 (R245K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170709	NM_001369598.1(ST7):c.563C>G (p.Ala188Gly)	ST7, ST7-AS2 (A142G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024369	GRCh38/hg38 7q31.1-31.2(chr7:113604778-117643891)	LOC113219472, LOC113633876 +131 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2617051	NM_001369598.1(ST7):c.935C>T (p.Thr312Ile)	ST7, ST7-AS2 (T243I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499643	GRCh38/hg38 7q31.2(chr7:116868268-117565389)	ASZ1, CAPZA2 +42 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2279724	NM_001369598.1(ST7):c.818G>A (p.Arg273His)	ST7, ST7-AS2 (R230H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 754198	NM_001369598.1(ST7):c.834A>G (p.Gln278=)	ST7, ST7-AS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 724738	NM_001369598.1(ST7):c.540G>A (p.Ser180=)	ST7, ST7-AS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 583430	NC_000007.13:g.(?_116339129)_(117144427_?)dup	LOC116186911, LOC123956215 +45 more	Duplication	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 183291	NM_001369598.1(ST7):c.489T>G (p.Tyr163Ter)	ST7, ST7-AS2 (Y163* +3 more)	Single nucleotide variant (nonsense +1 more)	Global developmental delay +2 more	GLikely pathogenic
Select item 155346	GRCh38/hg38 7q31.1-31.2(chr7:114389395-117253741)x1	CAPZA2, CAV1 +98 more	Copy number loss	See cases	GPathogenic
Select item 154392	GRCh38/hg38 7q31.1-31.31(chr7:114898882-117790123)x1	ASZ1, CAPZA2 +131 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic