ClinVar for Gene (Select 27335) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	ACP7, ACTN4 +34 more	Duplication	RYR1-related disorder	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 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 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 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	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 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
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: 23