Related gene-specific medical variations for Gene (Select 6695) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062854	GRCh37/hg19 5q31.2(chr5:136234222-136461621)x3	SPOCK1	Copy number gain	not specified	GUncertain significance
Select item 814748	GRCh37/hg19 5q31.2(chr5:136414500-136770840)x1	SPOCK1	Copy number loss	not provided	GUncertain significance
Select item 813649	NM_004598.4(SPOCK1):c.313G>A (p.Ala105Thr)	SPOCK1 (A105T)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 687875	GRCh37/hg19 5q31.2(chr5:136543033-136615940)x1	SPOCK1	Copy number loss	not provided	GUncertain significance
Select item 635952	NC_000005.9:g.136320037_136380192dup	SPOCK1	Duplication	Internal malformations	GUncertain significance
Select item 152435	GRCh38/hg38 5q31.2(chr5:137051283-137117353)x3	SPOCK1	Copy number gain	See cases	GLikely benign
Select item 151649	GRCh38/hg38 5q31.2(chr5:137051283-137088694)x3	SPOCK1	Copy number gain	See cases	GUncertain significance

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