ClinVar for MedGen (Select 1641736) - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584652	NM_003392.7(WNT5A):c.157A>T (p.Asn53Tyr)	WNT5A (N38Y +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 2438613	NM_003392.7(WNT5A):c.890A>G (p.Gln297Arg)	WNT5A (Q282R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 1691703	NM_003392.7(WNT5A):c.41del (p.Leu14fs)	WNT5A (L14fs)	Deletion (5 prime UTR variant +1 more)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 1633369	NM_003392.7(WNT5A):c.684+18C>A	WNT5A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1621125	NM_003392.7(WNT5A):c.6+18T>A	WNT5A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1567377	NM_003392.7(WNT5A):c.522G>T (p.Pro174=)	WNT5A	Single nucleotide variant (synonymous variant)	Autosomal dominant Robinow syndrome 1 +1 more	GLikely benign
Select item 1563096	NM_003392.7(WNT5A):c.20T>C (p.Ile7Thr)	WNT5A (I7T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1487547	NM_003392.7(WNT5A):c.937G>A (p.Glu313Lys)	WNT5A (E313K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1479849	NM_001330311.2(DVL1):c.382C>T (p.Arg128Cys)	DVL1 (R128C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1441429	NM_003392.7(WNT5A):c.448A>G (p.Met150Val)	WNT5A (M135V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1 +1 more	GUncertain significance
Select item 1413528	NM_003392.7(WNT5A):c.290C>T (p.Ala97Val)	WNT5A (A82V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1 +1 more	GUncertain significance
Select item 1362244	NM_003392.7(WNT5A):c.554A>G (p.Asn185Ser)	WNT5A (N170S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1311644	NM_003392.7(WNT5A):c.-6C>A	WNT5A	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant Robinow syndrome 1 +1 more	GUncertain significance
Select item 1224446	NM_003392.7(WNT5A):c.685A>G (p.Thr229Ala)	WNT5A (T229A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1065560	NM_003392.7(WNT5A):c.206G>T (p.Cys69Phe)	WNT5A (C54F +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 1053536	NM_003392.7(WNT5A):c.1005C>T (p.Cys335=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1046361	NM_003392.7(WNT5A):c.634G>A (p.Glu212Lys)	WNT5A (E212K +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1 +1 more	GUncertain significance
Select item 1026244	NM_001330311.2(DVL1):c.1454A>G (p.Asn485Ser)	DVL1 (N460S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 1023432	NM_003392.7(WNT5A):c.1123G>A (p.Asp375Asn)	WNT5A (D360N +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1 +1 more	GUncertain significance
Select item 989280	NM_003392.7(WNT5A):c.547G>A (p.Gly183Ser)	WNT5A (G168S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 981473	NM_003392.7(WNT5A):c.247T>G (p.Cys83Gly)	WNT5A (C68G +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1	GLikely pathogenic
Select item 981472	NM_003392.7(WNT5A):c.461G>T (p.Cys154Phe)	WNT5A (C139F +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 981471	NM_003392.7(WNT5A):c.248G>A (p.Cys83Tyr)	WNT5A (C68Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 981470	NM_001466.4(FZD2):c.367_388dup (p.Phe130fs)	FZD2 (F130fs)	Duplication (frameshift variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 977082	NM_003392.7(WNT5A):c.115G>C (p.Val39Leu)	WNT5A (V24L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 931630	NM_001330311.2(DVL1):c.1682_1683dup (p.Ser562fs)	DVL1 (S537fs +1 more)	Duplication (frameshift variant)	Autosomal dominant Robinow syndrome 1	GLikely pathogenic
Select item 931592	NM_001330311.2(DVL1):c.2078_*7del (p.Asp693_Ter696delinsXaa)	DVL1	Deletion (stop lost)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 788936	NM_001330311.2(DVL1):c.272C>T (p.Ala91Val)	DVL1 (A91V)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 2 +2 more	GBenign/Likely benign
Select item 775880	NM_003392.7(WNT5A):c.502G>A (p.Ala168Thr)	WNT5A (A168T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 731899	NM_003392.7(WNT5A):c.291G>A (p.Ala97=)	WNT5A	Single nucleotide variant (synonymous variant)	Autosomal dominant Robinow syndrome 1 +1 more	GLikely benign
Select item 719587	NM_001330311.2(DVL1):c.433C>T (p.Arg145Trp)	DVL1 (R145W)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 694689	NM_004423.4(DVL3):c.1715-2A>C	DVL3	Single nucleotide variant (splice acceptor variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 617609	NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter)	FZD2 (W548*)	Single nucleotide variant	Autosomal dominant Robinow syndrome 2 +2 more	GPathogenic
Select item 488061	NM_001466.4(FZD2):c.1300G>A (p.Gly434Ser)	FZD2 (G434S)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 2	GLikely pathogenic
Select item 488060	NM_003392.7(WNT5A):c.479C>G (p.Ser160Cys)	WNT5A (S160C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1	GLikely pathogenic
Select item 488054	NM_003392.7(WNT5A):c.487_492dup (p.Gly163_Cys164dup)	WNT5A	Duplication (inframe_insertion)	Autosomal dominant Robinow syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 445553	NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala)	DVL1 (T431A +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 2 +2 more	GLikely benign
Select item 367493	NM_004560.4(ROR2):c.*170AG[1]	ROR2	Microsatellite (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1 +2 more	GBenign
Select item 367482	NM_004560.4(ROR2):c.*766T>C	ROR2	Single nucleotide variant (3 prime UTR variant)	Brachydactyly +1 more	GLikely benign
Select item 346278	NM_003392.6(WNT5A):c.-394_-392delCCA	WNT5A	Deletion (genic upstream transcript variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 346267	NM_003392.7(WNT5A):c.807G>A (p.Lys269=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 346252	NM_003392.7(WNT5A):c.*1428TA[6]	WNT5A	Microsatellite (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 346251	NM_003392.7(WNT5A):c.*1428TA[8]	WNT5A	Microsatellite (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 346249	NM_003392.7(WNT5A):c.*1444TA[5]	WNT5A	Microsatellite (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 346248	NM_003392.7(WNT5A):c.*1452AATATA[4]	WNT5A	Microsatellite (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GLikely benign
Select item 346241	NM_003392.7(WNT5A):c.1952_1953del	WNT5A	Deletion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 346240	NM_003392.7(WNT5A):c.1952_1953dup	WNT5A	Duplication (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 346239	NM_003392.7(WNT5A):c.*1953dup	WNT5A	Duplication (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 346232	NM_003392.7(WNT5A):c.*2711del	WNT5A	Deletion (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 346231	NM_003392.7(WNT5A):c.2711_2713del	WNT5A	Deletion (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 346230	NM_003392.7(WNT5A):c.*2728del	WNT5A	Deletion (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 346229	NM_003392.7(WNT5A):c.2728_2730del	WNT5A	Deletion (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 346228	NM_003392.7(WNT5A):c.*2731dup	WNT5A	Duplication (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 346210	NM_003392.7(WNT5A):c.*3932CT[3]	WNT5A	Microsatellite (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 346206	NM_003392.7(WNT5A):c.*4179dup	WNT5A	Duplication (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GBenign
Select item 287634	NM_003392.7(WNT5A):c.14T>C (p.Ile5Thr)	WNT5A (I5T)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant Robinow syndrome 1 +2 more	GBenign/Likely benign
Select item 219222	NM_004423.4(DVL3):c.1749del (p.Ser583fs)	DVL3 (S583fs)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 219221	NM_004423.4(DVL3):c.1716del (p.Ser573fs)	DVL3 (S573fs)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 219220	NM_004423.4(DVL3):c.1715-1G>A	DVL3	Single nucleotide variant (splice acceptor variant)	Autosomal dominant Robinow syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 219219	NM_004423.4(DVL3):c.1715-2A>G	DVL3	Single nucleotide variant (splice acceptor variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 219218	NM_004423.4(DVL3):c.1585del (p.Ala529fs)	DVL3 (A529fs)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 208049	NM_001330311.2(DVL1):c.1637del (p.Pro546fs)	DVL1 (P521fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 162615	NM_003392.7(WNT5A):c.545G>C (p.Cys182Ser)	WNT5A (C167S)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1	Gnot provided
Select item 162613	NM_003392.7(WNT5A):c.206G>A (p.Cys69Tyr)	WNT5A (C69Y +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 162612	NM_003392.7(WNT5A):c.257A>G (p.Tyr86Cys)	WNT5A (Y86C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 160316	NM_003392.7(WNT5A):c.487G>C (p.Gly163Arg)	WNT5A (G163R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 160314	NM_003392.7(WNT5A):c.391+11A>G	WNT5A	Single nucleotide variant (intron variant)	Autosomal dominant Robinow syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 160313	NM_003392.7(WNT5A):c.141-9C>T	WNT5A	Single nucleotide variant (intron variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 160312	NM_003392.7(WNT5A):c.141-9C>G	WNT5A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 160311	NM_003392.7(WNT5A):c.141-8C>G	WNT5A	Single nucleotide variant (intron variant)	Autosomal dominant Robinow syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 160310	NM_003392.7(WNT5A):c.140+14A>G	WNT5A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 159818	NM_004560.4(ROR2):c.2455G>A (p.Val819Ile)	ROR2 (V819I)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +4 more	GBenign
Select item 29820	NM_003392.7(WNT5A):c.248G>C (p.Cys83Ser)	WNT5A (C83S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 29819	NM_003392.7(WNT5A):c.544T>C (p.Cys182Arg)	WNT5A (C182R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1	GPathogenic

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Items: 74