TSC22D4-C7ORF61[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	UFSP1, VGF +299 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +229 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +309 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	CNPY4, COPS6 +227 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 1525991	NM_001004323.3(SPACDR):c.259del (p.Glu87fs)	SPACDR, TSC22D4-C7ORF61 (E87fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2258164	NM_030935.5(TSC22D4):c.1172A>T (p.Asn391Ile)	TSC22D4, TSC22D4-C7ORF61 (N391I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2489412	NM_030935.5(TSC22D4):c.1129C>A (p.Leu377Met)	TSC22D4, TSC22D4-C7ORF61 (L377M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2405808	NM_030935.5(TSC22D4):c.1112C>T (p.Pro371Leu)	TSC22D4, TSC22D4-C7ORF61 (P371L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2381096	NM_030935.5(TSC22D4):c.832A>C (p.Lys278Gln)	TSC22D4-C7ORF61, TSC22D4 (K278Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356034	NM_030935.5(TSC22D4):c.727C>T (p.Arg243Trp)	TSC22D4-C7ORF61, TSC22D4 (R243W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403574	NM_030935.5(TSC22D4):c.661G>A (p.Glu221Lys)	TSC22D4, TSC22D4-C7ORF61 (E221K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317233	NM_030935.5(TSC22D4):c.581G>A (p.Arg194His)	TSC22D4, TSC22D4-C7ORF61 (R194H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325493	NM_030935.5(TSC22D4):c.422C>T (p.Pro141Leu)	TSC22D4, TSC22D4-C7ORF61 (P141L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600368	NM_030935.5(TSC22D4):c.316G>A (p.Gly106Ser)	TSC22D4, TSC22D4-C7ORF61 (G106S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600201	NM_030935.5(TSC22D4):c.256C>T (p.Arg86Cys)	TSC22D4, TSC22D4-C7ORF61 (R86C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209881	NM_030935.5(TSC22D4):c.203C>T (p.Pro68Leu)	TSC22D4, TSC22D4-C7ORF61 (P68L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543140	NM_030935.5(TSC22D4):c.157G>C (p.Gly53Arg)	TSC22D4, TSC22D4-C7ORF61 (G53R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347507	NM_030935.5(TSC22D4):c.155C>T (p.Pro52Leu)	TSC22D4-C7ORF61, TSC22D4 (P52L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229283	NM_030935.5(TSC22D4):c.134A>G (p.Asn45Ser)	TSC22D4-C7ORF61, TSC22D4 (N45S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2297969	NM_030935.5(TSC22D4):c.11G>A (p.Gly4Asp)	TSC22D4, TSC22D4-C7ORF61 (G4D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 24