4374[HGNC] - ClinVar

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Items: 21

	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 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 2320384	NM_004877.4(GMFG):c.425G>T (p.Arg142Leu)	GMFG (R101L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496517	NM_004877.4(GMFG):c.227T>G (p.Val76Gly)	GMFG (V35G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601448	NM_004877.4(GMFG):c.185C>G (p.Pro62Arg)	GMFG (P62R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512411	NM_004877.4(GMFG):c.185C>T (p.Pro62Leu)	GMFG (P29L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605296	NM_004877.4(GMFG):c.145T>C (p.Phe49Leu)	GMFG (F49L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607918	NM_004877.4(GMFG):c.134T>C (p.Leu45Pro)	GMFG (L45P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100481	NM_004877.4(GMFG):c.118C>G (p.Arg40Gly)	GMFG (R7G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2494258	NM_004877.4(GMFG):c.82G>A (p.Asp28Asn)	GMFG (D28N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3100483	NM_004877.4(GMFG):c.76G>C (p.Glu26Gln)	GMFG (E26Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2374031	NM_004877.4(GMFG):c.64C>T (p.Arg22Cys)	GMFG (R22C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537365	NM_004877.4(GMFG):c.35C>T (p.Pro12Leu)	GMFG (P12L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2556238	NM_004877.4(GMFG):c.26A>C (p.Glu9Ala)	GMFG (E9A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	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 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

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Items: 21