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

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 590197	NM_000756.4(CRH):c.579T>C (p.Ile193=)	CRH	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2237856	NM_000756.4(CRH):c.529G>A (p.Ala177Thr)	CRH (A177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077406	NM_000756.4(CRH):c.522G>C (p.Met174Ile)	CRH (M174I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1742464	NM_000756.4(CRH):c.468G>A (p.Glu156=)	CRH	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 585726	NM_000756.4(CRH):c.456G>A (p.Arg152=)	CRH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 587989	NM_000756.4(CRH):c.438G>A (p.Glu146=)	CRH	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2545288	NM_000756.4(CRH):c.424G>A (p.Gly142Ser)	CRH (G142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311840	NM_000756.4(CRH):c.421C>G (p.Leu141Val)	CRH (L141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269491	NM_000756.4(CRH):c.419C>G (p.Ala140Gly)	CRH (A140G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243545	NM_000756.4(CRH):c.394C>G (p.Leu132Val)	CRH (L132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286918	NM_000756.4(CRH):c.367C>G (p.Arg123Gly)	CRH (R123G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475509	NM_000756.4(CRH):c.340G>C (p.Val114Leu)	CRH (V114L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1729917	NM_000756.4(CRH):c.329A>G (p.Asn110Ser)	CRH (N110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 585725	NM_000756.4(CRH):c.288A>C (p.Gly96=)	CRH	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 587862	NM_000756.4(CRH):c.239A>G (p.Asn80Ser)	CRH (N80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1784728	NM_000756.4(CRH):c.202A>T (p.Met68Leu)	CRH (M68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1775494	NM_000756.4(CRH):c.157_180dup (p.Gln60_Ala61insSerGluGlnProGlnGlnProGln)	CRH	Duplication (inframe_insertion)	not specified	GUncertain significance
Select item 587822	NM_000756.4(CRH):c.146CGC[4] (p.Pro51dup)	CRH	Microsatellite (inframe_insertion)	not specified +1 more	GBenign
Select item 587788	NM_000756.4(CRH):c.110C>T (p.Ala37Val)	CRH, LOC130000523 (A37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 183027	NM_000756.4(CRH):c.89C>G (p.Pro30Arg)	CRH, LOC130000523 (P30R)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 1764003	NM_000756.4(CRH):c.85G>A (p.Gly29Arg)	CRH, LOC130000523 (G29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 587969	NM_000756.4(CRH):c.72G>A (p.Ala24=)	CRH, LOC130000523	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1757170	NM_000756.4(CRH):c.70G>A (p.Ala24Thr)	CRH, LOC130000523 (A24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328356	NM_000756.4(CRH):c.52C>T (p.Pro18Ser)	CRH (P18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 585727	NM_000756.4(CRH):c.51G>C (p.Leu17=)	CRH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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Items: 25