27335[Gene ID] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 26

	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 3087972	NM_013234.4(EIF3K):c.7A>G (p.Met3Val)	EIF3K (M3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087966	NM_013234.4(EIF3K):c.32T>G (p.Val11Gly)	EIF3K (V11G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275016	NM_013234.4(EIF3K):c.178T>C (p.Phe60Leu)	EIF3K (F60L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457834	NM_013234.4(EIF3K):c.199G>A (p.Ala67Thr)	EIF3K (A67T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275017	NM_013234.4(EIF3K):c.232C>G (p.Pro78Ala)	EIF3K (P78A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340214	NM_013234.4(EIF3K):c.316G>A (p.Gly106Arg)	EIF3K (G19R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087967	NM_013234.4(EIF3K):c.346G>T (p.Ala116Ser)	EIF3K (A29S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087968	NM_013234.4(EIF3K):c.403G>A (p.Glu135Lys)	EIF3K, LOC126862903 (E135K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312279	NM_013234.4(EIF3K):c.410C>G (p.Ser137Cys)	EIF3K, LOC126862903 (S137C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087969	NM_013234.4(EIF3K):c.463C>T (p.Arg155Cys)	EIF3K, LOC126862903 (R68C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391248	NM_013234.4(EIF3K):c.464G>A (p.Arg155His)	EIF3K, LOC126862903 (R68H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489703	NM_013234.4(EIF3K):c.484C>T (p.Leu162Phe)	EIF3K, LOC126862903 (L162F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275015	NM_013234.4(EIF3K):c.508C>G (p.Leu170Val)	EIF3K (L83V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087971	NM_013234.4(EIF3K):c.584G>A (p.Ser195Asn)	EIF3K (S108N +2 more)	Single nucleotide variant (missense variant)	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 3024610	GRCh37/hg19 19q13.2(chr19:38909031-39308215)x3	ACTN4, CAPN12 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	DPF1, ECH1 +34 more	Duplication	RYR1-related disorder	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 394022	GRCh37/hg19 19q13.2(chr19:39108036-39165341)x3	ACTN4, EIF3K +1 more	Copy number gain	See cases	GUncertain significance
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 26