C0265223[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 370440	NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)	VPS13B (R146*)	Single nucleotide variant (nonsense +1 more)	Cohen syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1217349	NM_152564.5(VPS13B):c.760A>T (p.Lys254Ter)	VPS13B (K254*)	Single nucleotide variant (nonsense +1 more)	Cohen syndrome	GLikely pathogenic
Select item 964660	NM_152564.5(VPS13B):c.1087G>A (p.Glu363Lys)	VPS13B (E363K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 262657	NM_152564.5(VPS13B):c.1206+33T>G	VPS13B (Y413*)	Single nucleotide variant (nonsense +2 more)	Cohen syndrome +2 more	GBenign
Select item 95831	NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)	VPS13B (Q416H)	Single nucleotide variant (missense variant)	Cohen syndrome +3 more	GConflicting classifications of pathogenicity
Select item 193906	NM_152564.5(VPS13B):c.1559A>G (p.His520Arg)	VPS13B (H520R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 856158	NM_152564.5(VPS13B):c.1762A>G (p.Ser588Gly)	VPS13B (S588G)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 194256	NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)	VPS13B (A590T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 663979	NM_152564.5(VPS13B):c.1774C>T (p.His592Tyr)	VPS13B (H592Y)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 95835	NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)	VPS13B (R611K)	Single nucleotide variant (missense variant)	Cohen syndrome +3 more	GConflicting classifications of pathogenicity
Select item 290694	NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe)	VPS13B (S824F)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 361049	NM_152564.5(VPS13B):c.2760A>G (p.Leu920=)	VPS13B	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1177034	NM_152564.5(VPS13B):c.2824+97G>C	VPS13B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 588603	NM_152564.5(VPS13B):c.2917A>G (p.Ser973Gly)	VPS13B (S973G)	Single nucleotide variant (missense variant)	Cohen syndrome +1 more	GUncertain significance
Select item 212573	NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome +3 more	GConflicting classifications of pathogenicity
Select item 95844	NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile)	VPS13B (T1068I)	Single nucleotide variant (missense variant)	Cohen syndrome +3 more	GBenign/Likely benign
Select item 1209716	NM_152564.5(VPS13B):c.3330G>T (p.Met1110Ile)	VPS13B (M1110I)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 95845	NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)	VPS13B (K1129R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1209714	NM_152564.5(VPS13B):c.3650A>T (p.Lys1217Ile)	VPS13B (K1217I)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 1177035	NM_152564.5(VPS13B):c.3666+55T>C	VPS13B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 95848	NM_152564.5(VPS13B):c.3667-7C>T	VPS13B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 95849	NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala)	VPS13B (T1251A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1209717	NM_017890.5(VPS13B):c.4232G>A (p.Arg1411His)	VPS13B (R1411H)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 1217354	NM_152564.5(VPS13B):c.4286_4287insT (p.Ala1431fs)	VPS13B (A1431fs +1 more)	Insertion (frameshift variant)	Cohen syndrome	GLikely pathogenic
Select item 361064	NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser)	VPS13B (P1621S +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GConflicting classifications of pathogenicity
Select item 1217352	NM_152564.5(VPS13B):c.5148del (p.Gln1717fs)	VPS13B (Q1717fs +1 more)	Deletion (frameshift variant)	Cohen syndrome	GLikely pathogenic
Select item 520921	NM_152564.5(VPS13B):c.5326G>T (p.Val1776Phe)	VPS13B (V1776F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 196918	NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)	VPS13B (T1869M +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 95858	NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val)	VPS13B (I1969V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 965028	NM_152564.5(VPS13B):c.6262G>A (p.Asp2088Asn)	VPS13B (D2113N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 196985	NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)	VPS13B (N2139S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1209715	NM_152564.5(VPS13B):c.7295C>T (p.Thr2432Ile)	VPS13B (T2432I +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 857695	NM_152564.5(VPS13B):c.7610T>C (p.Val2537Ala)	VPS13B (V2562A +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 1217353	NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter)	VPS13B (Q2551* +1 more)	Single nucleotide variant (nonsense)	Cohen syndrome	GPathogenic/Likely pathogenic
Select item 95867	NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)	VPS13B (E2560K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GBenign/Likely benign
Select item 95872	NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)	VPS13B (P2857L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 95874	NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly)	VPS13B (S3117G)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 95875	NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=)	VPS13B	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 361083	NM_152564.5(VPS13B):c.9603A>G (p.Gly3201=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GConflicting classifications of pathogenicity
Select item 361085	NM_152564.5(VPS13B):c.9831G>A (p.Pro3277=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GConflicting classifications of pathogenicity
Select item 130717	NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile)	VPS13B (T3350I +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome +3 more	GBenign/Likely benign
Select item 262652	NM_152564.5(VPS13B):c.10061+24G>A	VPS13B	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 95821	NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg)	VPS13B (G3407R)	Single nucleotide variant (missense variant)	Cohen syndrome +3 more	GBenign/Likely benign
Select item 95824	NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val)	VPS13B (I3582V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 198013	NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)	VPS13B (R3732Q +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome +3 more	GConflicting classifications of pathogenicity
Select item 95828	NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)	VPS13B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 361097	NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile)	VPS13B (K3966I +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GConflicting classifications of pathogenicity
Select item 1217350	NM_152564.5(VPS13B):c.11958G>A (p.Met3986Ile)	VPS13B (M3986I +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 43233	NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 11 +5 more	GConflicting classifications of pathogenicity

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Items: 49