"Ambry Genetics"[submitter] AND "RHBDD2"[gene] - ClinVar

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

Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2396046	NM_001040456.3(RHBDD2):c.7G>A (p.Ala3Thr)	RHBDD2 (A3T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2308415	NM_001040456.3(RHBDD2):c.16C>T (p.Pro6Ser)	RHBDD2 (P6S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2371108	NM_001040456.3(RHBDD2):c.36C>G (p.Cys12Trp)	RHBDD2 (C12W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2616080	NM_001040456.3(RHBDD2):c.49G>A (p.Val17Met)	RHBDD2 (V17M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3153962	NM_001040456.3(RHBDD2):c.64T>A (p.Phe22Ile)	RHBDD2 (F22I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3153958	NM_001040456.3(RHBDD2):c.248T>C (p.Ile83Thr)	RHBDD2 (I83T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2203918	NM_001040456.3(RHBDD2):c.253C>T (p.Arg85Cys)	RHBDD2 (R85C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3314165	NM_001040456.3(RHBDD2):c.335T>C (p.Ile112Thr)	RHBDD2 (I112T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2530894	NM_001040456.3(RHBDD2):c.361T>C (p.Ser121Pro)	RHBDD2 (S121P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3314161	NM_001040456.3(RHBDD2):c.442G>A (p.Val148Ile)	RHBDD2 (V7I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153959	NM_001040456.3(RHBDD2):c.445C>A (p.Arg149Ser)	RHBDD2 (R149S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314163	NM_001040456.3(RHBDD2):c.521C>T (p.Ala174Val)	RHBDD2 (A33V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153960	NM_001040456.3(RHBDD2):c.542C>T (p.Thr181Ile)	RHBDD2 (T40I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314162	NM_001040456.3(RHBDD2):c.583G>A (p.Ala195Thr)	RHBDD2 (A195T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405383	NM_001040456.3(RHBDD2):c.613G>A (p.Asp205Asn)	RHBDD2 (D64N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320601	NM_001040456.3(RHBDD2):c.632C>T (p.Ala211Val)	RHBDD2 (A211V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153961	NM_001040456.3(RHBDD2):c.639G>T (p.Lys213Asn)	RHBDD2 (K77N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217329	NM_001040456.3(RHBDD2):c.654C>G (p.Phe218Leu)	RHBDD2 (F218L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355732	NM_001040456.3(RHBDD2):c.725C>T (p.Ala242Val)	RHBDD2 (A106V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589971	NM_001040456.3(RHBDD2):c.758C>T (p.Ser253Phe)	RHBDD2 (S105F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481809	NM_001040456.3(RHBDD2):c.820C>G (p.His274Asp)	RHBDD2 (H126D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614389	NM_001040456.3(RHBDD2):c.872T>C (p.Met291Thr)	RHBDD2 (M143T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559327	NM_001040456.3(RHBDD2):c.937A>G (p.Asn313Asp)	RHBDD2 (N177D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153964	NM_001040456.3(RHBDD2):c.959A>C (p.Tyr320Ser)	RHBDD2 (Y320S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153965	NM_001040456.3(RHBDD2):c.971C>T (p.Ala324Val)	RHBDD2 (A183V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204295	NM_001040456.3(RHBDD2):c.1010A>C (p.Asn337Thr)	RHBDD2 (N189T +3 more)	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: 26