C5399974[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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

Search results

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 367494	NM_004560.4(ROR2):c.*135G>T	ROR2	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type B1 +1 more	GUncertain significance
Select item 1503564	NM_004560.4(ROR2):c.2782G>C (p.Asp928His)	ROR2 (D928H)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +3 more	GUncertain significance
Select item 1541154	NM_004560.4(ROR2):c.2724C>T (p.Thr908=)	ROR2	Single nucleotide variant (synonymous variant)	Brachydactyly type B1 +2 more	GLikely benign
Select item 722115	NM_004560.4(ROR2):c.2613A>C (p.Thr871=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1595374	NM_004560.4(ROR2):c.2604C>T (p.Ser868=)	ROR2	Single nucleotide variant (synonymous variant)	Autosomal recessive Robinow syndrome +2 more	GLikely benign
Select item 798673	NM_004560.4(ROR2):c.2586C>T (p.His862=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1372272	NM_004560.4(ROR2):c.2521C>G (p.Gln841Glu)	ROR2 (Q841E)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +3 more	GUncertain significance
Select item 1636711	NM_004560.4(ROR2):c.2478G>A (p.Pro826=)	ROR2	Single nucleotide variant (synonymous variant)	Brachydactyly type B1 +2 more	GLikely benign
Select item 730222	NM_004560.4(ROR2):c.2451C>T (p.Leu817=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1460550	NM_004560.4(ROR2):c.2442G>A (p.Pro814=)	ROR2	Single nucleotide variant (synonymous variant)	Brachydactyly type B1 +2 more	GLikely benign
Select item 1059368	NM_004560.4(ROR2):c.2354G>A (p.Arg785His)	ROR2 (R785H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 720399	NM_004560.4(ROR2):c.2274G>A (p.Ser758=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1002128	NM_004560.4(ROR2):c.2206C>T (p.Arg736Trp)	ROR2 (R736W)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +3 more	GUncertain significance
Select item 286325	NM_004560.4(ROR2):c.2155G>A (p.Ala719Thr)	ROR2 (A719T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 199098	NM_004560.4(ROR2):c.2080T>C (p.Cys694Arg)	ROR2 (C694R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1012281	NM_004560.4(ROR2):c.2014G>A (p.Asp672Asn)	ROR2 (D672N)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +2 more	GUncertain significance
Select item 1640548	NM_004560.4(ROR2):c.1998C>T (p.Tyr666=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1434684	NM_004560.4(ROR2):c.1997A>G (p.Tyr666Cys)	ROR2 (Y666C)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +3 more	GUncertain significance
Select item 592994	NM_004560.4(ROR2):c.1940A>G (p.Lys647Arg)	ROR2 (K647R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1402192	NM_004560.4(ROR2):c.1913G>A (p.Arg638Gln)	ROR2 (R638Q)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +2 more	GUncertain significance
Select item 286284	NM_004560.4(ROR2):c.1885G>A (p.Val629Met)	ROR2 (V629M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1056684	NM_004560.4(ROR2):c.1873G>A (p.Asp625Asn)	ROR2 (D625N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 718253	NM_004560.4(ROR2):c.1863G>A (p.Val621=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1463306	NM_004560.4(ROR2):c.1799C>T (p.Ala600Val)	ROR2 (A600V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1399575	NM_004560.4(ROR2):c.1771G>A (p.Asp591Asn)	ROR2 (D591N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1006928	NM_004560.4(ROR2):c.1746G>A (p.Thr582=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1449920	NM_004560.4(ROR2):c.1732G>A (p.Asp578Asn)	ROR2 (D578N)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +2 more	GUncertain significance
Select item 289424	NM_004560.4(ROR2):c.1712A>G (p.His571Arg)	ROR2 (H571R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1336627	NM_004560.4(ROR2):c.1687G>A (p.Glu563Lys)	ROR2 (E563K)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +3 more	GUncertain significance
Select item 1382727	NM_004560.4(ROR2):c.1639C>A (p.Gln547Lys)	ROR2 (Q547K)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +2 more	GUncertain significance
Select item 1062154	NM_004560.4(ROR2):c.1630A>G (p.Thr544Ala)	ROR2 (T544A)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +3 more	GUncertain significance
Select item 1407886	NM_004560.4(ROR2):c.1624G>A (p.Val542Met)	ROR2 (V542M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1130715	NM_004560.4(ROR2):c.1605C>T (p.Asn535=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1403084	NM_004560.4(ROR2):c.1601C>A (p.Pro534His)	ROR2 (P534H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 736848	NM_004560.4(ROR2):c.1572G>A (p.Glu524=)	ROR2	Single nucleotide variant (synonymous variant)	Brachydactyly type B1 +2 more	GLikely benign
Select item 1436175	NM_004560.4(ROR2):c.1553G>A (p.Arg518Gln)	ROR2 (R518Q)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +2 more	GUncertain significance
Select item 367503	NM_004560.4(ROR2):c.1552C>T (p.Arg518Trp)	ROR2 (R518W)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +1 more	GUncertain significance
Select item 721154	NM_004560.4(ROR2):c.1524G>A (p.Thr508=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1512907	NM_004560.4(ROR2):c.1502C>A (p.Thr501Asn)	ROR2 (T501N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 499901	NM_004560.4(ROR2):c.1490C>T (p.Pro497Leu)	ROR2 (P497L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 591604	NM_004560.4(ROR2):c.1412C>T (p.Ser471Phe)	ROR2 (S471F)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +1 more	GUncertain significance
Select item 1434703	NM_004560.4(ROR2):c.1399G>C (p.Glu467Gln)	ROR2 (E467Q)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +2 more	GUncertain significance
Select item 547044	NM_004560.4(ROR2):c.1322G>A (p.Arg441Gln)	ROR2 (R441Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1446676	NM_004560.4(ROR2):c.1240A>G (p.Ile414Val)	ROR2 (I414V)	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GUncertain significance
Select item 853593	NM_004560.4(ROR2):c.1154G>A (p.Arg385His)	ROR2 (R385H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 453133	NM_004560.4(ROR2):c.1105G>A (p.Gly369Arg)	ROR2 (G369R)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +2 more	GUncertain significance
Select item 1141709	NM_004560.4(ROR2):c.1104C>T (p.Pro368=)	ROR2	Single nucleotide variant (synonymous variant)	Brachydactyly type B1 +2 more	GLikely benign
Select item 983464	NM_004560.4(ROR2):c.1096C>T (p.Arg366Trp)	ROR2 (R366W)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +1 more	GLikely pathogenic
Select item 1548895	NM_004560.4(ROR2):c.954C>T (p.Asn318=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1600717	NM_004560.4(ROR2):c.937+16C>T	ROR2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 198175	NM_004560.4(ROR2):c.937+10C>T	ROR2	Single nucleotide variant (intron variant)	Autosomal recessive Robinow syndrome +3 more	GBenign/Likely benign
Select item 212059	NM_004560.4(ROR2):c.904C>T (p.Arg302Cys)	ROR2 (R302C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1513231	NM_004560.4(ROR2):c.888C>T (p.Asp296=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 497121	NM_004560.4(ROR2):c.871A>G (p.Met291Val)	ROR2 (M291V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1012279	NM_004560.4(ROR2):c.769G>A (p.Glu257Lys)	ROR2 (E257K)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +2 more	GUncertain significance
Select item 1418155	NM_004560.4(ROR2):c.768C>T (p.Cys256=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 745957	NM_004560.4(ROR2):c.721G>A (p.Ala241Thr)	ROR2 (A241T)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 367514	NM_004560.4(ROR2):c.717C>T (p.Cys239=)	ROR2	Single nucleotide variant (synonymous variant)	Autosomal recessive Robinow syndrome +2 more	GBenign/Likely benign
Select item 1053432	NM_004560.4(ROR2):c.533G>A (p.Arg178Gln)	ROR2 (R178Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 761017	NM_004560.4(ROR2):c.525G>A (p.Gln175=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1570640	NM_004560.4(ROR2):c.494+17C>T	ROR2	Single nucleotide variant (intron variant)	Brachydactyly type B1 +2 more	GLikely benign
Select item 1594654	NM_004560.4(ROR2):c.485A>G (p.His162Arg)	ROR2 (H162R)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +2 more	GBenign/Likely benign
Select item 367516	NM_004560.4(ROR2):c.471G>A (p.Thr157=)	ROR2	Single nucleotide variant (synonymous variant)	Brachydactyly type B1 +2 more	GBenign
Select item 1485199	NM_004560.4(ROR2):c.457C>T (p.Arg153Trp)	ROR2 (R153W)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +3 more	GUncertain significance
Select item 196393	NM_004560.4(ROR2):c.372C>T (p.Asp124=)	ROR2	Single nucleotide variant (synonymous variant)	Brachydactyly type B1 +3 more	GBenign/Likely benign
Select item 1501680	NM_004560.4(ROR2):c.334C>T (p.Arg112Trp)	ROR2 (R112W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1012278	NM_004560.4(ROR2):c.302C>T (p.Pro101Leu)	ROR2 (P101L)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +2 more	GUncertain significance
Select item 1482780	NM_004560.4(ROR2):c.281G>A (p.Arg94Gln)	ROR2 (R94Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1561018	NM_004560.4(ROR2):c.175+17A>G	ROR2	Single nucleotide variant (intron variant)	Autosomal recessive Robinow syndrome +2 more	GBenign/Likely benign
Select item 1377629	NM_004560.4(ROR2):c.175+3G>T	ROR2	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1066325	NM_004560.4(ROR2):c.175+1G>A	ROR2	Single nucleotide variant (splice donor variant)	Brachydactyly type B1 +2 more	GLikely pathogenic
Select item 1103652	NM_004560.4(ROR2):c.97+7T>C	ROR2	Single nucleotide variant (intron variant)	Autosomal recessive Robinow syndrome +2 more	GLikely benign
Select item 594697	NM_004560.4(ROR2):c.37C>G (p.Leu13Val)	ROR2 (L13V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 193287	NM_004560.4(ROR2):c.7C>T (p.Arg3Trp)	ROR2 (R3W)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +3 more	GBenign/Likely benign
Select item 367522	NM_004560.4(ROR2):c.-102G>T	ROR2	Single nucleotide variant (5 prime UTR variant)	Brachydactyly type B1 +1 more	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: 75