TSC22D4[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 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 2258164	NM_030935.5(TSC22D4):c.1172A>T (p.Asn391Ile)	TSC22D4, TSC22D4-C7ORF61 (N391I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183575	NM_030935.5(TSC22D4):c.1151G>A (p.Arg384Gln)	TSC22D4, TSC22D4-C7ORF61 (R384Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183574	NM_030935.5(TSC22D4):c.1139C>T (p.Ser380Leu)	TSC22D4, TSC22D4-C7ORF61 (S380L)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2381096	NM_030935.5(TSC22D4):c.832A>C (p.Lys278Gln)	TSC22D4, TSC22D4-C7ORF61 (K278Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183582	NM_030935.5(TSC22D4):c.760C>A (p.Gln254Lys)	TSC22D4, TSC22D4-C7ORF61 (Q254K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356034	NM_030935.5(TSC22D4):c.727C>T (p.Arg243Trp)	TSC22D4, TSC22D4-C7ORF61 (R243W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329548	NM_030935.5(TSC22D4):c.700C>T (p.Arg234Trp)	TSC22D4, TSC22D4-C7ORF61 (R234W)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3183581	NM_030935.5(TSC22D4):c.659C>T (p.Ala220Val)	TSC22D4, TSC22D4-C7ORF61 (A220V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2317233	NM_030935.5(TSC22D4):c.581G>A (p.Arg194His)	TSC22D4, TSC22D4-C7ORF61 (R194H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183579	NM_030935.5(TSC22D4):c.457C>G (p.Arg153Gly)	TSC22D4, TSC22D4-C7ORF61 (R153G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325493	NM_030935.5(TSC22D4):c.422C>T (p.Pro141Leu)	TSC22D4, TSC22D4-C7ORF61 (P141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183578	NM_030935.5(TSC22D4):c.319G>A (p.Gly107Arg)	TSC22D4, TSC22D4-C7ORF61 (G107R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2600368	NM_030935.5(TSC22D4):c.316G>A (p.Gly106Ser)	TSC22D4, TSC22D4-C7ORF61 (G106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600201	NM_030935.5(TSC22D4):c.256C>T (p.Arg86Cys)	TSC22D4, TSC22D4-C7ORF61 (R86C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209881	NM_030935.5(TSC22D4):c.203C>T (p.Pro68Leu)	TSC22D4, TSC22D4-C7ORF61 (P68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183577	NM_030935.5(TSC22D4):c.179A>G (p.Asn60Ser)	TSC22D4, TSC22D4-C7ORF61 (N60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543140	NM_030935.5(TSC22D4):c.157G>C (p.Gly53Arg)	TSC22D4, TSC22D4-C7ORF61 (G53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347507	NM_030935.5(TSC22D4):c.155C>T (p.Pro52Leu)	TSC22D4, TSC22D4-C7ORF61 (P52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229283	NM_030935.5(TSC22D4):c.134A>G (p.Asn45Ser)	TSC22D4, TSC22D4-C7ORF61 (N45S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329547	NM_030935.5(TSC22D4):c.119C>T (p.Pro40Leu)	TSC22D4, TSC22D4-C7ORF61 (P40L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3183580	NM_030935.5(TSC22D4):c.62G>A (p.Gly21Asp)	TSC22D4, TSC22D4-C7ORF61 (G21D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297969	NM_030935.5(TSC22D4):c.11G>A (p.Gly4Asp)	TSC22D4, TSC22D4-C7ORF61 (G4D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685256	GRCh37/hg19 7q22.1(chr7:99263437-100105272)x1	ZNF3, ZSCAN21 +32 more	Copy number loss	not provided	GUncertain significance
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GUncertain significance
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 51