ClinVar for Gene (Select 29946) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317658	NM_203344.3(SERTAD3):c.66T>A (p.Ser22Arg)	SERTAD3 (S22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160523	NM_203344.3(SERTAD3):c.565A>G (p.Ile189Val)	SERTAD3 (I189V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160522	NM_203344.3(SERTAD3):c.332C>A (p.Pro111His)	SERTAD3 (P111H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160521	NM_203344.3(SERTAD3):c.209G>A (p.Arg70His)	SERTAD3 (R70H)	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 2552998	NM_203344.3(SERTAD3):c.57G>T (p.Trp19Cys)	SERTAD3 (W19C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545840	NM_203344.3(SERTAD3):c.161G>A (p.Arg54Lys)	SERTAD3 (R54K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510486	NM_203344.3(SERTAD3):c.85T>C (p.Tyr29His)	SERTAD3 (Y29H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425787	NC_000019.9:g.(?_40882496)_(41135455_?)dup	BLVRB, HIPK4 +7 more	Duplication	not provided	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 2310511	NM_203344.3(SERTAD3):c.494G>A (p.Arg165Gln)	SERTAD3 (R165Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235417	NM_203344.3(SERTAD3):c.547T>G (p.Trp183Gly)	SERTAD3 (W183G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233113	NM_203344.3(SERTAD3):c.127C>A (p.Arg43Ser)	SERTAD3 (R43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228165	NM_203344.3(SERTAD3):c.128G>A (p.Arg43His)	SERTAD3 (R43H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211716	NM_203344.3(SERTAD3):c.419G>A (p.Arg140Gln)	SERTAD3 (R140Q)	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 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: 22