"Ambry Genetics"[submitter] AND "TUBGCP4"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1365407	NM_014444.5(TUBGCP4):c.40G>A (p.Gly14Arg)	TUBGCP4 (G14R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2111483	NM_014444.5(TUBGCP4):c.131G>A (p.Arg44Gln)	TUBGCP4 (R44Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1014403	NM_014444.5(TUBGCP4):c.139C>T (p.Arg47Trp)	TUBGCP4 (R47W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1393311	NM_014444.5(TUBGCP4):c.157A>G (p.Ile53Val)	TUBGCP4 (I53V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1901870	NM_014444.5(TUBGCP4):c.161G>A (p.Arg54His)	TUBGCP4 (R54H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 839511	NM_014444.5(TUBGCP4):c.167C>T (p.Thr56Ile)	TUBGCP4 (T56I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1450950	NM_014444.5(TUBGCP4):c.188C>T (p.Thr63Met)	TUBGCP4 (T63M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 853960	NM_014444.5(TUBGCP4):c.194A>G (p.His65Arg)	TUBGCP4 (H65R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1359246	NM_014444.5(TUBGCP4):c.257T>G (p.Leu86Arg)	TUBGCP4 (L86R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1009263	NM_014444.5(TUBGCP4):c.343C>A (p.Pro115Thr)	TUBGCP4 (P115T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1352509	NM_014444.5(TUBGCP4):c.362A>G (p.His121Arg)	TUBGCP4 (H121R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 791098	NM_014444.5(TUBGCP4):c.368A>G (p.Asn123Ser)	TUBGCP4 (N123S)	Single nucleotide variant (missense variant)	TUBGCP4-related condition +3 more	GBenign/Likely benign
Select item 859149	NM_014444.5(TUBGCP4):c.418G>A (p.Val140Ile)	TUBGCP4 (V140I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3184814	NM_014444.5(TUBGCP4):c.466A>G (p.Thr156Ala)	TUBGCP4 (T156A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2013362	NM_014444.5(TUBGCP4):c.497C>A (p.Pro166His)	TUBGCP4 (P166H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2265583	NM_014444.5(TUBGCP4):c.685G>A (p.Gly229Arg)	TUBGCP4 (G229R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284030	NM_014444.5(TUBGCP4):c.725G>A (p.Arg242His)	TUBGCP4 (R242H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307225	NM_014444.5(TUBGCP4):c.779G>A (p.Arg260Gln)	TUBGCP4 (R260Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791099	NM_014444.5(TUBGCP4):c.967G>T (p.Val323Leu)	TUBGCP4 (V323L)	Single nucleotide variant (missense variant)	TUBGCP4-related condition +3 more	GBenign/Likely benign
Select item 852439	NM_014444.5(TUBGCP4):c.989A>G (p.Asp330Gly)	TUBGCP4 (D330G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 849642	NM_014444.5(TUBGCP4):c.992G>A (p.Arg331His)	TUBGCP4 (R331H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3184809	NM_014444.5(TUBGCP4):c.1084C>G (p.Leu362Val)	TUBGCP4 (L362V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230799	NM_014444.5(TUBGCP4):c.1165G>A (p.Glu389Lys)	TUBGCP4 (E389K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310082	NM_014444.5(TUBGCP4):c.1234C>T (p.Pro412Ser)	TUBGCP4 (P412S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 424373	NM_014444.5(TUBGCP4):c.1309C>T (p.Arg437Trp)	TUBGCP4 (R437W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2544096	NM_014444.5(TUBGCP4):c.1483T>C (p.Trp495Arg)	TUBGCP4 (W496R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184811	NM_014444.5(TUBGCP4):c.1535T>C (p.Ile512Thr)	TUBGCP4 (I512T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 288198	NM_014444.5(TUBGCP4):c.1652G>A (p.Arg551Gln)	TUBGCP4 (R551Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 850485	NM_014444.5(TUBGCP4):c.1670G>A (p.Arg557Gln)	TUBGCP4 (R558Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 741414	NM_014444.5(TUBGCP4):c.1781C>T (p.Ser594Leu)	TP53BP1, TUBGCP4 (S594L +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly and chorioretinopathy 3 +2 more	GLikely benign
Select item 3184812	NM_014444.5(TUBGCP4):c.1799T>C (p.Leu600Pro)	TP53BP1, TUBGCP4 (L600P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606052	NM_014444.5(TUBGCP4):c.1891A>G (p.Ser631Gly)	TP53BP1, TUBGCP4 (S632G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269219	NM_014444.5(TUBGCP4):c.1964C>A (p.Thr655Asn)	TP53BP1, TUBGCP4 (T655N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244079	NM_014444.5(TUBGCP4):c.1992C>G (p.Phe664Leu)	TP53BP1, TUBGCP4 (F665L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3181404	NM_001141980.3(TP53BP1):c.5813G>A (p.Cys1938Tyr)	TP53BP1, TUBGCP4 (C1888Y +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2346229	NM_001141980.3(TP53BP1):c.5761G>A (p.Val1921Ile)	TP53BP1, TUBGCP4 (V1919I +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2332623	NM_001141980.3(TP53BP1):c.5753C>G (p.Ala1918Gly)	TP53BP1, TUBGCP4 (A1913G +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 37