ClinVar for Gene (Select 94274) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309347	NM_033256.3(PPP1R14A):c.59C>T (p.Ala20Val)	PPP1R14A (A20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309346	NM_033256.3(PPP1R14A):c.389C>A (p.Ser130Tyr)	PPP1R14A (S130Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309345	NM_033256.3(PPP1R14A):c.328G>C (p.Glu110Gln)	PPP1R14A (E83Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217481	NM_033256.3(PPP1R14A):c.428G>A (p.Arg143Gln)	PPP1R14A (R143Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217480	NM_033256.3(PPP1R14A):c.422G>C (p.Arg141Pro)	PPP1R14A (R114P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217479	NM_033256.3(PPP1R14A):c.306A>T (p.Lys102Asn)	PPP1R14A (K102N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2555694	NM_033256.3(PPP1R14A):c.412C>G (p.Leu138Val)	PPP1R14A (L111V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533103	NM_033256.3(PPP1R14A):c.109G>A (p.Val37Ile)	PPP1R14A (V37I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477946	NM_033256.3(PPP1R14A):c.422G>A (p.Arg141Gln)	PPP1R14A (R114Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476848	NM_033256.3(PPP1R14A):c.374G>T (p.Arg125Leu)	PPP1R14A (R125L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	DPF1, ECH1 +34 more	Duplication	RYR1-related disorder	GUncertain significance
Select item 2398761	NM_033256.3(PPP1R14A):c.415C>A (p.Gln139Lys)	PPP1R14A (Q139K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382941	NM_033256.3(PPP1R14A):c.374G>A (p.Arg125His)	PPP1R14A (R125H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371861	NM_033256.3(PPP1R14A):c.271C>T (p.Arg91Trp)	PPP1R14A (R91W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363915	NM_033256.3(PPP1R14A):c.28G>C (p.Val10Leu)	PPP1R14A (V10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309766	NM_033256.3(PPP1R14A):c.272G>A (p.Arg91Gln)	PPP1R14A (R91Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276194	NM_033256.3(PPP1R14A):c.28G>T (p.Val10Leu)	PPP1R14A (V10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264785	NM_033256.3(PPP1R14A):c.19G>A (p.Gly7Ser)	PPP1R14A (G7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526664	GRCh37/hg19 19q13.12-13.2(chr19:38278995-38745778)	DPF1, PPP1R14A +2 more	Copy number gain	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 816081	GRCh37/hg19 19q13.13-13.2(chr19:38512717-39291526)x3	ACTN4, C19orf33 +18 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 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
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
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 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 28