TM9SF4[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 145102	GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3	ABALON, ASXL1 +104 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 2349245	NM_014742.4(TM9SF4):c.7A>G (p.Thr3Ala)	LOC126863012, TM9SF4 (T3A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3178168	NM_014742.4(TM9SF4):c.11C>T (p.Ala4Val)	LOC126863012, TM9SF4 (A4V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 152498	GRCh38/hg38 20q11.21(chr20:32113570-32127947)x3	TM9SF4	Copy number gain	See cases	GLikely benign
Select item 3178180	NM_014742.4(TM9SF4):c.89C>T (p.Ala30Val)	TM9SF4 (A13V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178175	NM_014742.4(TM9SF4):c.176A>T (p.Tyr59Phe)	TM9SF4 (Y59F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589596	NM_014742.4(TM9SF4):c.194A>G (p.Gln65Arg)	TM9SF4 (Q48R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178177	NM_014742.4(TM9SF4):c.286A>G (p.Ser96Gly)	TM9SF4 (S79G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330486	NM_014742.4(TM9SF4):c.481G>C (p.Val161Leu)	TM9SF4 (V144L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178178	NM_014742.4(TM9SF4):c.555C>A (p.Phe185Leu)	TM9SF4 (F168L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630080	NM_014742.4(TM9SF4):c.562T>C (p.Tyr188His)	TM9SF4 (Y171H +1 more)	Single nucleotide variant (missense variant)	TM9SF4-related disorder	GUncertain significance
Select item 3178179	NM_014742.4(TM9SF4):c.572G>A (p.Arg191Gln)	TM9SF4 (R191Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1685177	NM_014742.4(TM9SF4):c.580A>T (p.Met194Leu)	TM9SF4 (M177L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469008	NM_014742.4(TM9SF4):c.616C>T (p.Arg206Cys)	TM9SF4 (R189C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2632495	NM_014742.4(TM9SF4):c.631C>G (p.Pro211Ala)	TM9SF4 (P194A +1 more)	Single nucleotide variant (missense variant)	TM9SF4-related disorder	GUncertain significance
Select item 2285039	NM_014742.4(TM9SF4):c.731A>T (p.Lys244Met)	TM9SF4 (K227M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352110	NM_014742.4(TM9SF4):c.908G>A (p.Arg303Gln)	TM9SF4 (R286Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510314	NM_014742.4(TM9SF4):c.1009C>A (p.Pro337Thr)	TM9SF4 (P320T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494687	NM_014742.4(TM9SF4):c.1196G>T (p.Arg399Leu)	TM9SF4 (R382L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178169	NM_014742.4(TM9SF4):c.1309G>A (p.Gly437Arg)	TM9SF4 (G420R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178170	NM_014742.4(TM9SF4):c.1330G>A (p.Val444Met)	TM9SF4 (V427M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429936	NM_014742.4(TM9SF4):c.1411G>A (p.Gly471Ser)	TM9SF4 (G454S +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 3178171	NM_014742.4(TM9SF4):c.1537G>A (p.Ala513Thr)	TM9SF4 (A513T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303478	NM_014742.4(TM9SF4):c.1633G>A (p.Val545Met)	TM9SF4 (V528M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178173	NM_014742.4(TM9SF4):c.1697G>A (p.Arg566His)	TM9SF4 (R549H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178174	NM_014742.4(TM9SF4):c.1760T>C (p.Ile587Thr)	TM9SF4 (I587T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283085	NM_014742.4(TM9SF4):c.1775A>C (p.Asn592Thr)	TM9SF4 (N575T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178176	NM_014742.4(TM9SF4):c.1895T>C (p.Val632Ala)	TM9SF4 (V632A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248338	NC_000020.10:g.(?_30226821)_(31025141_?)dup	ASXL1, BCL2L1 +14 more	Duplication	not provided	GUncertain significance
Select item 3062405	GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3	BPIFB1, BPIFB2 +37 more	Copy number gain	not specified	GUncertain significance
Select item 2684904	GRCh37/hg19 20q11.21(chr20:30582924-30860287)x3	CCM2L, HCK +4 more	Copy number gain	not provided	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 560101	Single allele	CST11, CST2 +89 more	Duplication	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CD93, PDRG1 +89 more	Copy number gain	See cases	GPathogenic

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Items: 45