RWDD2A[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 1222964	NM_033411.5(RWDD2A):c.-140-405G>C	PGM3, RWDD2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275110	NM_033411.5(RWDD2A):c.-140-389dup	PGM3, RWDD2A	Duplication (intron variant)	not provided	GBenign
Select item 3157249	NM_033411.5(RWDD2A):c.148G>T (p.Ala50Ser)	RWDD2A (A50S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2324857	NM_033411.5(RWDD2A):c.236G>A (p.Ser79Asn)	RWDD2A (S13N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157250	NM_033411.5(RWDD2A):c.268C>T (p.Arg90Trp)	RWDD2A (R15W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233317	NM_033411.5(RWDD2A):c.277G>A (p.Glu93Lys)	RWDD2A (E93K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240127	NM_033411.5(RWDD2A):c.293A>G (p.Gln98Arg)	RWDD2A (Q32R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157251	NM_033411.5(RWDD2A):c.347G>A (p.Gly116Asp)	RWDD2A (G41D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315826	NM_033411.5(RWDD2A):c.418C>T (p.Leu140Phe)	RWDD2A (L65F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599985	NM_033411.5(RWDD2A):c.529G>A (p.Val177Ile)	RWDD2A (V111I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255791	NM_033411.5(RWDD2A):c.602A>G (p.Lys201Arg)	RWDD2A (K126R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411399	NM_033411.5(RWDD2A):c.644A>G (p.Asn215Ser)	RWDD2A (N140S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157252	NM_033411.5(RWDD2A):c.678C>A (p.Ser226Arg)	RWDD2A (S151R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253659	NM_033411.5(RWDD2A):c.679G>A (p.Val227Met)	RWDD2A (V161M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255648	NM_033411.5(RWDD2A):c.790G>A (p.Gly264Ser)	RWDD2A (G264S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246041	NC_000006.11:g.(?_83881756)_(84086643_?)del	ME1, PGM3 +1 more	Deletion	Immunodeficiency 23	GPathogenic
Select item 2498333	GRCh37/hg19 6q14.1-14.3(chr6:82840207-86522229)x1	CEP162, CYB5R4 +18 more	Copy number loss	See cases	GPathogenic
Select item 1808487	GRCh37/hg19 6q14.1-14.2(chr6:81087736-84200632)x3	DOP1A, IBTK +6 more	Copy number gain	not provided	GUncertain significance
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527258	GRCh37/hg19 6q14.1-14.2(chr6:83888683-83941662)	ME1, PGM3 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527257	GRCh37/hg19 6q14.1-14.2(chr6:83788069-84228464)	DOP1A, ME1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1340905	GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)x1	CEP162, CGA +20 more	Copy number loss	not provided	GPathogenic
Select item 1003195	NC_000006.11:g.(?_83878953)_(84567108_?)dup	PRSS35, RIPPLY2 +4 more	Duplication	not provided	GUncertain significance
Select item 814839	GRCh37/hg19 6q14.1-14.2(chr6:82620262-84201117)x1	UBE3D, DOP1A +5 more	Copy number loss	not provided	GUncertain significance
Select item 685209	GRCh37/hg19 6q14.1-14.2(chr6:82987696-84007694)x1	DOP1A, ME1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 563192	GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1	BCKDHB, CD109 +40 more	Copy number loss	not provided	GPathogenic
Select item 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 253817	GRCh37/hg19 6q14.1-14.2(chr6:83753213-84004063)x3	ME1, DOP1A +3 more	Copy number gain	See cases	GUncertain significance
Select item 224831	Single allele	SNAP91, PGM3 +6 more	Deletion	Immunodeficiency 23	GPathogenic

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Items: 37