GEMIN7[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	PLA2G4C, PLA2G4C-AS1 +363 more	Copy number gain	See cases	GPathogenic
Select item 3194998	NM_145288.3(ZNF296):c.308C>T (p.Pro103Leu)	GEMIN7, ZNF296 (P103L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379727	NM_145288.3(ZNF296):c.295C>T (p.Pro99Ser)	GEMIN7, LOC130064667 +1 more (P99S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194997	NM_145288.3(ZNF296):c.286C>T (p.Pro96Ser)	GEMIN7, LOC130064667 +1 more (P96S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194996	NM_145288.3(ZNF296):c.266C>A (p.Thr89Asn)	GEMIN7, LOC130064667 +1 more (T89N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194995	NM_145288.3(ZNF296):c.215C>T (p.Pro72Leu)	GEMIN7, LOC130064667 +1 more (P72L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389149	NM_145288.3(ZNF296):c.136C>T (p.Pro46Ser)	GEMIN7, ZNF296 (P46S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221948	NM_145288.3(ZNF296):c.122A>G (p.Gln41Arg)	GEMIN7, ZNF296 (Q41R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2463879	NM_145288.3(ZNF296):c.96C>G (p.Ile32Met)	GEMIN7, LOC130064668 +1 more (I32M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195000	NM_145288.3(ZNF296):c.73A>C (p.Met25Leu)	GEMIN7, LOC130064668 +1 more (M25L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221436	NM_145288.3(ZNF296):c.40G>C (p.Glu14Gln)	GEMIN7, LOC130064668 +1 more (E14Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099401	NM_024707.3(GEMIN7):c.84T>A (p.Asp28Glu)	GEMIN7, GEMIN7-AS1 (D28E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2317049	NM_024707.3(GEMIN7):c.116C>T (p.Pro39Leu)	GEMIN7, GEMIN7-AS1 (P39L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2307777	NM_024707.3(GEMIN7):c.140C>T (p.Ala47Val)	GEMIN7, GEMIN7-AS1 (A47V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2483566	NM_024707.3(GEMIN7):c.148T>A (p.Ser50Thr)	GEMIN7, GEMIN7-AS1 (S50T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2522793	NM_024707.3(GEMIN7):c.306C>G (p.Phe102Leu)	GEMIN7 (F102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259061	NM_024707.3(GEMIN7):c.343G>A (p.Ala115Thr)	GEMIN7 (A115T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	GPR4, LOC400706 +75 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442437	GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1	APOC1, APOC2 +39 more	Copy number loss	See cases	GUncertain significance
Select item 253776	GRCh37/hg19 19q13.32(chr19:45284576-45978239)x3	NECTIN2, APOE +24 more	Copy number gain	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	ERCC2, PPP5C +121 more	Copy number loss	See cases	GPathogenic

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Items: 26