TSSK6[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 3183987	NM_032037.4(TSSK6):c.754C>G (p.Pro252Ala)	TSSK6 (P252A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492469	NM_032037.4(TSSK6):c.736G>A (p.Glu246Lys)	TSSK6 (E246K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464169	NM_032037.4(TSSK6):c.679G>A (p.Gly227Ser)	TSSK6 (G227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649608	NM_032037.4(TSSK6):c.606C>T (p.Leu202=)	TSSK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3183986	NM_032037.4(TSSK6):c.466G>A (p.Gly156Ser)	TSSK6 (G156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344657	NM_032037.4(TSSK6):c.434C>G (p.Pro145Arg)	TSSK6 (P145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183985	NM_032037.4(TSSK6):c.250G>A (p.Gly84Arg)	TSSK6 (G84R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688889	GRCh37/hg19 19p13.11(chr19:19560981-19962412)x3	ATP13A1, CILP2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance