6290[HGNC] - ClinVar

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Items: 41

	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 60074	GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1	ARRDC2, CCDC124 +85 more	Copy number loss	See cases	GPathogenic
Select item 2289349	NM_001386974.1(KCNN1):c.64G>A (p.Gly22Arg)	KCNN1 (G22R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 730919	NM_001386974.1(KCNN1):c.90C>T (p.Ala30=)	KCNN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2407496	NM_001386974.1(KCNN1):c.101C>T (p.Pro34Leu)	KCNN1 (P34L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113441	NM_001386974.1(KCNN1):c.110C>T (p.Pro37Leu)	KCNN1 (P37L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113443	NM_001386974.1(KCNN1):c.119C>T (p.Pro40Leu)	KCNN1 (P40L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388770	NM_001386974.1(KCNN1):c.140C>G (p.Ala47Gly)	KCNN1 (A47G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377281	NM_001386974.1(KCNN1):c.158G>A (p.Arg53Gln)	KCNN1 (R53Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2262347	NM_001386974.1(KCNN1):c.169G>A (p.Gly57Ser)	KCNN1 (G57S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113446	NM_001386974.1(KCNN1):c.179G>A (p.Arg60Gln)	KCNN1 (R60Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517233	NM_001386974.1(KCNN1):c.355G>T (p.Val119Phe)	KCNN1 (V119F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368352	NM_001386974.1(KCNN1):c.355G>A (p.Val119Ile)	KCNN1 (V119I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486136	NM_001386974.1(KCNN1):c.484G>A (p.Ala162Thr)	KCNN1 (A162T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649559	NM_001386974.1(KCNN1):c.765C>T (p.Ala255=)	KCNN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2541941	NM_001386974.1(KCNN1):c.904C>T (p.Arg302Cys)	KCNN1 (R302C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 734139	NM_001386974.1(KCNN1):c.917+8C>T	KCNN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2341494	NM_001386974.1(KCNN1):c.1034G>T (p.Gly345Val)	KCNN1 (G345V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230283	NM_001386974.1(KCNN1):c.1078C>T (p.Leu360Phe)	KCNN1 (L360F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527679	NM_001386974.1(KCNN1):c.1099C>T (p.Arg367Trp)	KCNN1 (R370W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530264	NM_001386974.1(KCNN1):c.1132G>A (p.Val378Met)	KCNN1 (V378M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113442	NM_001386974.1(KCNN1):c.1169G>A (p.Arg390Gln)	KCNN1 (R390Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527680	NM_001386974.1(KCNN1):c.1223A>T (p.His408Leu)	KCNN1 (H408L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287714	NM_001386974.1(KCNN1):c.1230G>C (p.Arg410Ser)	KCNN1 (R410S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594811	NM_001386974.1(KCNN1):c.1252G>T (p.Ala418Ser)	KCNN1 (A418S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287715	NM_001386974.1(KCNN1):c.1253C>T (p.Ala418Val)	KCNN1 (A418V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398950	NM_001386974.1(KCNN1):c.1366G>A (p.Asp456Asn)	KCNN1 (D456N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477932	NM_001386974.1(KCNN1):c.1430A>T (p.Glu477Val)	KCNN1 (E474V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535693	NM_001386974.1(KCNN1):c.1442G>A (p.Arg481His)	KCNN1 (R481H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513745	NM_001386974.1(KCNN1):c.1472C>T (p.Ala491Val)	KCNN1 (A488V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113445	NM_001386974.1(KCNN1):c.1565C>G (p.Pro522Arg)	KCNN1 (P525R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248581	NM_001386974.1(KCNN1):c.1598G>A (p.Arg533Gln)	KCNN1 (R530Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551530	NM_001386974.1(KCNN1):c.1619C>T (p.Ser540Leu)	KCNN1 (S537L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ISYNA1, JAK3 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
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

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Items: 41