"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 504595	NM_000601.6(HGF):c.2179C>T (p.Gln727Ter)	HGF (Q727* +1 more)	Single nucleotide variant (nonsense)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 667245	NM_000601.6(HGF):c.2011-3dup	HGF	Duplication (intron variant)	not specified	GUncertain significance
Select item 667244	NM_000601.6(HGF):c.1942G>A (p.Gly648Arg)	HGF (G643R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 517404	NM_000601.6(HGF):c.1934A>G (p.His645Arg)	HGF (H645R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 178380	NM_000601.6(HGF):c.1891G>A (p.Val631Met)	HGF (V631M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 194607	NM_000601.6(HGF):c.1832G>C (p.Ser611Thr)	HGF (S611T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 505295	NM_000601.6(HGF):c.1818T>C (p.Ile606=)	HGF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 194608	NM_000601.6(HGF):c.1814C>T (p.Thr605Ile)	HGF (T605I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 228740	NM_000601.6(HGF):c.1540A>G (p.Arg514Gly)	HGF (R514G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 43608	NM_000601.6(HGF):c.1454T>C (p.Ile485Thr)	HGF (I485T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1120098	NM_000601.6(HGF):c.1343A>G (p.His448Arg)	HGF (H443R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 43607	NM_000601.6(HGF):c.1272-4A>G	HGF	Single nucleotide variant (intron variant)	Nonsyndromic Hearing Loss, Mixed +3 more	GBenign/Likely benign
Select item 179875	NM_000601.6(HGF):c.1041-12T>C	HGF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 43606	NM_000601.6(HGF):c.1008G>A (p.Glu336=)	HGF	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 163660	NM_000601.6(HGF):c.983G>T (p.Arg328Leu)	HGF (R328L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 43611	NM_000601.6(HGF):c.910G>A (p.Glu304Lys)	HGF (E304K +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic Hearing Loss, Mixed +2 more	GBenign/Likely benign
Select item 779919	NM_000601.6(HGF):c.885C>T (p.Asp295=)	HGF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 163661	NM_000601.6(HGF):c.865+410dup	HGF	Duplication (synonymous variant +1 more)	not specified	Gnot provided
Select item 517565	NM_000601.6(HGF):c.865+11G>A	HGF	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 930004	NM_000601.6(HGF):c.754G>C (p.Asp252His)	HGF (D252H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 43610	NM_000601.6(HGF):c.711T>C (p.His237=)	HGF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 163662	NM_000601.6(HGF):c.682T>G (p.Ser228Ala)	HGF (S228A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 163663	NM_000601.6(HGF):c.659G>A (p.Arg220Gln)	HGF (R220Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 227427	NM_000601.6(HGF):c.471A>G (p.Pro157=)	HGF	Single nucleotide variant (synonymous variant)	Nonsyndromic Hearing Loss, Mixed +2 more	GConflicting classifications of pathogenicity
Select item 43609	NM_000601.6(HGF):c.333A>G (p.Glu111=)	HGF	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 196285	NM_000601.6(HGF):c.270T>C (p.Asp90=)	HGF	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 517567	NM_000601.6(HGF):c.258T>C (p.Ala86=)	HGF	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 505104	NM_000601.6(HGF):c.146C>A (p.Thr49Asn)	HGF (T49N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 360784	NM_000601.6(HGF):c.137C>T (p.Ala46Val)	HGF (A46V)	Single nucleotide variant (missense variant)	Nonsyndromic Hearing Loss, Mixed +3 more	GConflicting classifications of pathogenicity

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Items: 29