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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2259125	NM_024556.4(FAM118B):c.141T>G (p.Ile47Met)	FAM118B, SRPRA (I47M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348989	NM_024556.4(FAM118B):c.278G>T (p.Cys93Phe)	FAM118B, SRPRA (C93F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209390	NM_024556.4(FAM118B):c.381A>C (p.Leu127Phe)	FAM118B, SRPRA (L127F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341821	NM_024556.4(FAM118B):c.389T>C (p.Val130Ala)	FAM118B, SRPRA (V130A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297083	NM_024556.4(FAM118B):c.431A>G (p.Gln144Arg)	FAM118B, SRPRA (Q144R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260943	NM_024556.4(FAM118B):c.556G>A (p.Asp186Asn)	FAM118B, SRPRA (D186N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555580	NM_024556.4(FAM118B):c.593G>C (p.Arg198Pro)	FAM118B, SRPRA (R198P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277112	NM_024556.4(FAM118B):c.602G>C (p.Ser201Thr)	FAM118B, SRPRA (S201T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277113	NM_024556.4(FAM118B):c.604G>A (p.Val202Met)	FAM118B, SRPRA (V202M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221155	NM_024556.4(FAM118B):c.629C>G (p.Thr210Ser)	FAM118B, SRPRA (T210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333025	NM_024556.4(FAM118B):c.637A>C (p.Ser213Arg)	FAM118B, SRPRA (S213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250014	NM_024556.4(FAM118B):c.652C>T (p.His218Tyr)	FAM118B, SRPRA (H218Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529500	NM_024556.4(FAM118B):c.710A>C (p.Lys237Thr)	FAM118B, SRPRA (K237T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371891	NM_024556.4(FAM118B):c.890G>C (p.Gly297Ala)	FAM118B, SRPRA (G297A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555487	NM_024556.4(FAM118B):c.955T>C (p.Cys319Arg)	FAM118B, SRPRA (C319R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205528	NM_024556.4(FAM118B):c.1052C>T (p.Thr351Ile)	FAM118B, SRPRA (T351I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170054	NM_003139.4(SRPRA):c.1419T>G (p.Ser473Arg)	SRPRA (S473R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244830	NM_003139.4(SRPRA):c.1376C>T (p.Ala459Val)	SRPRA (A459V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212996	NM_003139.4(SRPRA):c.800A>G (p.Asn267Ser)	SRPRA (N239S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255175	NM_003139.4(SRPRA):c.736C>T (p.Arg246Trp)	SRPRA (R218W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236051	NM_003139.4(SRPRA):c.132C>G (p.Asn44Lys)	SRPRA (N44K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 21