"Ambry Genetics"[submitter] AND "ARPC4-TTLL3"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2387631	NM_005718.5(ARPC4):c.3+38G>A	ARPC4, ARPC4-TTLL3 (C14Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245057	NM_005718.5(ARPC4):c.337G>A (p.Asp113Asn)	ARPC4, ARPC4-TTLL3 (D113N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1339815	NM_005718.5(ARPC4):c.472C>T (p.Arg158Cys)	ARPC4, ARPC4-TTLL3 (R158C +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental delay, language impairment, and ocular abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 2338805	NM_001025930.5(TTLL3):c.71C>A (p.Ser24Tyr)	ARPC4-TTLL3, LOC129936138 +1 more (S24Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216041	NM_001025930.5(TTLL3):c.118C>G (p.Pro40Ala)	ARPC4-TTLL3, LOC129936138 +1 more (P40A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216042	NM_001025930.5(TTLL3):c.119C>A (p.Pro40Gln)	ARPC4-TTLL3, LOC129936138 +1 more (P40Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521832	NM_001025930.5(TTLL3):c.130G>A (p.Glu44Lys)	ARPC4-TTLL3, LOC129936138 +1 more (E44K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212011	NM_001025930.5(TTLL3):c.238G>A (p.Gly80Ser)	ARPC4-TTLL3, LOC129936138 +1 more (G80S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333670	NM_001387446.1(TTLL3):c.-168G>A	ARPC4-TTLL3, LOC129936138 +1 more (A88T)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2250564	NM_001387446.1(TTLL3):c.-153C>T	ARPC4-TTLL3, LOC129936138 +1 more (L93F)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2361077	NM_001387446.1(TTLL3):c.-134C>T	ARPC4-TTLL3, LOC129936138 +1 more (T99M)	Single nucleotide variant (intron variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2521284	NM_001387446.1(TTLL3):c.-87C>T	ARPC4-TTLL3, LOC129936138 +1 more (L115F)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2360177	NM_001387446.1(TTLL3):c.-77C>T	ARPC4-TTLL3, LOC129936138 +1 more (P118L)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2543369	NM_001387446.1(TTLL3):c.-20G>A	ARPC4-TTLL3, TTLL3 (G137E +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2298497	NM_001387446.1(TTLL3):c.466C>T (p.Arg156Trp)	ARPC4-TTLL3, TTLL3 (R256W +5 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2240991	NM_001387446.1(TTLL3):c.584G>T (p.Arg195Leu)	ARPC4-TTLL3, TTLL3 (R151L +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2405090	NM_001387446.1(TTLL3):c.1035G>A (p.Met345Ile)	TTLL3, ARPC4-TTLL3 (M301I +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602155	NM_001387446.1(TTLL3):c.1492G>A (p.Ala498Thr)	ARPC4-TTLL3, TTLL3 (A442T +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594010	NM_001387446.1(TTLL3):c.1649G>C (p.Cys550Ser)	ARPC4-TTLL3, TTLL3 (C386S +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328648	NM_001387446.1(TTLL3):c.1690G>A (p.Val564Met)	ARPC4-TTLL3, TTLL3 (V531M +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2371258	NM_001387446.1(TTLL3):c.1784G>A (p.Arg595His)	TTLL3, ARPC4-TTLL3 (R340H +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2473262	NM_001387446.1(TTLL3):c.1828C>T (p.Arg610Cys)	ARPC4-TTLL3, TTLL3 (P586L +7 more)	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2254126	NM_001387446.1(TTLL3):c.1851C>T (p.His617=)	ARPC4-TTLL3, TTLL3 (T527I +13 more)	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2354072	NM_001387446.1(TTLL3):c.1906A>G (p.Arg636Gly)	ARPC4-TTLL3, TTLL3 (R677G +7 more)	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2289437	NM_001387446.1(TTLL3):c.1950C>G (p.Thr650=)	ARPC4-TTLL3, TTLL3 (P421R +10 more)	Single nucleotide variant (missense variant +4 more)	Inborn genetic diseases	GUncertain significance
Select item 2220022	NM_001387446.1(TTLL3):c.1973T>C (p.Leu658Pro)	ARPC4-TTLL3, TTLL3 (L699P +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2250165	NM_001387446.1(TTLL3):c.1999C>T (p.Leu667Phe)	ARPC4-TTLL3, TTLL3 (L591F +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2545856	NM_001387446.1(TTLL3):c.2027C>T (p.Ala676Val)	ARPC4-TTLL3, TTLL3 (A600V +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2330199	NM_001387446.1(TTLL3):c.2069G>C (p.Cys690Ser)	ARPC4-TTLL3, TTLL3 (C491S +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2328442	NM_001387446.1(TTLL3):c.2172G>T (p.Arg724Ser)	ARPC4-TTLL3, TTLL3 (R681S +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2570101	NM_001387446.1(TTLL3):c.2306G>A (p.Arg769Gln)	ARPC4-TTLL3, TTLL3 (R726Q +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2524270	NM_001387446.1(TTLL3):c.2311C>T (p.Pro771Ser)	ARPC4-TTLL3, TTLL3 (P572S +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2358817	NM_001387446.1(TTLL3):c.2317G>A (p.Ala773Thr)	TTLL3, ARPC4-TTLL3 (A773T +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2218869	NM_001387446.1(TTLL3):c.2368G>T (p.Gly790Trp)	ARPC4-TTLL3, TTLL3 (G591W +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2348825	NM_001387446.1(TTLL3):c.2417C>T (p.Pro806Leu)	ARPC4-TTLL3, TTLL3 (P763L +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2235903	NM_001387446.1(TTLL3):c.2426C>T (p.Pro809Leu)	ARPC4-TTLL3, TTLL3 (P766L +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 36