ClinVar for Gene (Select 8190) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294647	NM_006533.4(MIA):c.197G>A (p.Arg66Gln)	MIA, MIA-RAB4B (R66Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3125997	NM_006533.4(MIA):c.208G>C (p.Val70Leu)	MIA, MIA-RAB4B (V70L)	Single nucleotide variant (non-coding transcript 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 3052511	NM_006533.3(MIA):c.-20_-9del12	MIA	Deletion (intron variant)	MIA-related disorder	GLikely benign
Select item 3038439	NM_006533.4(MIA):c.110C>T (p.Ala37Val)	MIA, MIA-RAB4B (A37V)	Single nucleotide variant (non-coding transcript variant +1 more)	MIA-related disorder	GBenign
Select item 3036794	NM_006533.4(MIA):c.*4C>T	LOC130064489, MIA +1 more	Single nucleotide variant (3 prime UTR variant)	MIA-related disorder	GLikely benign
Select item 2518608	NM_006533.4(MIA):c.254G>C (p.Gly85Ala)	MIA, MIA-RAB4B (G85A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2464899	NM_006533.4(MIA):c.235C>T (p.Arg79Cys)	MIA, MIA-RAB4B (R79C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 2392060	NM_006533.4(MIA):c.7C>T (p.Arg3Trp)	MIA, MIA-RAB4B (R3W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2361784	NM_006533.4(MIA):c.35T>C (p.Ile12Thr)	MIA, MIA-RAB4B (I12T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2334606	NM_006533.4(MIA):c.215T>C (p.Val72Ala)	MIA, MIA-RAB4B (V72A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2316749	NM_006533.4(MIA):c.379G>T (p.Asp127Tyr)	LOC130064489, MIA +1 more (D127Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211964	NM_006533.4(MIA):c.278A>G (p.Tyr93Cys)	MIA, MIA-RAB4B (Y93C)	Single nucleotide variant (non-coding transcript variant +1 more)	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 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: 21