"Ambry Genetics"[submitter] AND "RC3H1"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2347014	NM_172071.4(RC3H1):c.3310A>T (p.Thr1104Ser)	RC3H1 (T1104S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237441	NM_172071.4(RC3H1):c.3255T>G (p.Asp1085Glu)	RC3H1 (D1085E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224351	NM_172071.4(RC3H1):c.3224C>T (p.Pro1075Leu)	RC3H1 (P1075L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392334	NM_172071.4(RC3H1):c.3203C>G (p.Pro1068Arg)	RC3H1 (P1068R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371814	NM_172071.4(RC3H1):c.3202C>T (p.Pro1068Ser)	RC3H1 (P1059S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152658	NM_172071.4(RC3H1):c.3133A>G (p.Met1045Val)	RC3H1 (M1036V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264514	NM_172071.4(RC3H1):c.3072G>T (p.Gln1024His)	RC3H1 (Q1024H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152657	NM_172071.4(RC3H1):c.3056T>C (p.Met1019Thr)	RC3H1 (M1010T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301424	NM_172071.4(RC3H1):c.3032C>T (p.Pro1011Leu)	RC3H1 (P1011L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152656	NM_172071.4(RC3H1):c.2986C>G (p.Gln996Glu)	RC3H1 (Q996E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556102	NM_172071.4(RC3H1):c.2911C>G (p.Gln971Glu)	RC3H1 (Q971E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152655	NM_172071.4(RC3H1):c.2861A>G (p.His954Arg)	RC3H1 (H954R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241648	NM_172071.4(RC3H1):c.2720A>C (p.Lys907Thr)	LOC126805924, RC3H1 (K907T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299788	NM_172071.4(RC3H1):c.2716A>G (p.Thr906Ala)	LOC126805924, RC3H1 (T906A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600277	NM_172071.4(RC3H1):c.2714C>A (p.Pro905His)	LOC126805924, RC3H1 (P905H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473214	NM_172071.4(RC3H1):c.2695A>G (p.Met899Val)	LOC126805924, RC3H1 (M899V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233556	NM_172071.4(RC3H1):c.2527G>A (p.Val843Met)	LOC126805924, RC3H1 (V843M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152653	NM_172071.4(RC3H1):c.2524A>G (p.Asn842Asp)	LOC126805924, RC3H1 (N842D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152652	NM_172071.4(RC3H1):c.2493T>A (p.Asp831Glu)	RC3H1 (D831E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368691	NM_172071.4(RC3H1):c.2414A>G (p.Asn805Ser)	RC3H1 (N805S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1184348	NM_172071.4(RC3H1):c.2146G>A (p.Glu716Lys)	RC3H1 (E716K)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 3152651	NM_172071.4(RC3H1):c.1915T>A (p.Leu639Met)	RC3H1 (L639M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152650	NM_172071.4(RC3H1):c.1913A>G (p.Tyr638Cys)	RC3H1 (Y638C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224058	NM_172071.4(RC3H1):c.1877G>T (p.Arg626Leu)	RC3H1 (R626L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354727	NM_172071.4(RC3H1):c.1802C>T (p.Pro601Leu)	RC3H1 (P601L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538309	NM_172071.4(RC3H1):c.1759C>A (p.Gln587Lys)	RC3H1 (Q587K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152649	NM_172071.4(RC3H1):c.1721T>C (p.Leu574Pro)	RC3H1 (L574P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464767	NM_172071.4(RC3H1):c.1639A>G (p.Ile547Val)	RC3H1 (I547V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152648	NM_172071.4(RC3H1):c.1601G>T (p.Gly534Val)	RC3H1 (G534V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216131	NM_172071.4(RC3H1):c.1601G>C (p.Gly534Ala)	RC3H1 (G534A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152647	NM_172071.4(RC3H1):c.1588A>C (p.Ser530Arg)	RC3H1 (S530R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152646	NM_172071.4(RC3H1):c.1535C>T (p.Thr512Ile)	RC3H1 (T512I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295167	NM_172071.4(RC3H1):c.1471C>A (p.Pro491Thr)	RC3H1 (P491T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152644	NM_172071.4(RC3H1):c.1430T>G (p.Leu477Arg)	RC3H1 (L477R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468171	NM_172071.4(RC3H1):c.1354C>T (p.Arg452Cys)	RC3H1 (R452C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549574	NM_172071.4(RC3H1):c.1349A>T (p.Asn450Ile)	RC3H1 (N450I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152643	NM_172071.4(RC3H1):c.1231C>T (p.His411Tyr)	RC3H1 (H411Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530996	NM_172071.4(RC3H1):c.1220A>C (p.Gln407Pro)	RC3H1 (Q407P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152642	NM_172071.4(RC3H1):c.1117A>G (p.Thr373Ala)	RC3H1 (T373A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152659	NM_172071.4(RC3H1):c.713C>T (p.Ser238Phe)	RC3H1 (S238F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317691	NM_172071.4(RC3H1):c.169A>G (p.Ile57Val)	RC3H1 (I57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152660	NM_172071.4(RC3H1):c.85A>G (p.Ile29Val)	RC3H1 (I29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152654	NM_172071.4(RC3H1):c.27G>A (p.Thr9=)	RC3H1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

ClinVar

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Items: 43