C0265354[trait identifier] AND "Center for Human Genetics, Inc, Center - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195333	NM_017780.4(CHD7):c.323C>A (p.Pro108His)	CHD7 (P108H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 195326	NM_017780.4(CHD7):c.712G>A (p.Val238Met)	CHD7 (V238M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 547189	NM_017780.4(CHD7):c.862C>T (p.Gln288Ter)	CHD7 (Q288*)	Single nucleotide variant (nonsense)	CHARGE association	GLikely pathogenic
Select item 547190	NM_017780.4(CHD7):c.1294del (p.His432fs)	CHD7 (H432fs)	Deletion (frameshift variant)	CHARGE association	GPathogenic
Select item 260891	NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)	CHD7 (S466L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 241189	NM_017780.4(CHD7):c.1565G>T (p.Gly522Val)	CHD7 (G522V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 547191	NM_017780.4(CHD7):c.1597_1598insT (p.His533fs)	CHD7 (H533fs)	Insertion (frameshift variant)	CHARGE association	GLikely pathogenic
Select item 95776	NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)	CHD7, LOC126860403	Duplication	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 547192	NM_017780.4(CHD7):c.3089A>C (p.Asn1030Thr)	CHD7 (N1030T)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GUncertain significance
Select item 220434	NM_017780.4(CHD7):c.3379-2A>C	CHD7	Single nucleotide variant (intron variant +1 more)	CHARGE association	GPathogenic/Likely pathogenic
Select item 547193	NM_017780.4(CHD7):c.5210+3A>G	CHD7	Single nucleotide variant (intron variant)	CHARGE association	GPathogenic/Likely pathogenic
Select item 547194	NM_017780.4(CHD7):c.5607+1G>A	CHD7	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 547195	NM_017780.4(CHD7):c.6070C>T (p.Arg2024Ter)	CHD7 (R2024*)	Single nucleotide variant (nonsense +1 more)	CHARGE association +1 more	GPathogenic
Select item 363479	NM_017780.4(CHD7):c.7481C>T (p.Thr2494Ile)	CHD7 (T2494I)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 547196	NM_017780.4(CHD7):c.7648G>T (p.Glu2550Ter)	CHD7 (E2550*)	Single nucleotide variant (nonsense +1 more)	CHARGE association	GLikely pathogenic
Select item 158321	NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter)	CHD7 (R2653* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 547197	NM_017780.4(CHD7):c.8087del (p.Pro2696fs)	CHD7 (P2696fs +1 more)	Deletion (frameshift variant)	CHARGE association	GLikely pathogenic
Select item 547198	NM_017780.4(CHD7):c.8744dup (p.Leu2916fs)	CHD7 (L867fs +1 more)	Duplication (frameshift variant)	CHARGE association	GPathogenic
Select item 363486	NM_017780.4(CHD7):c.8740G>A (p.Gly2914Arg)	CHD7 (G2914R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign