RWDD2A[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	EEF1A1-AS1, KCNQ5-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	ME1, MEI4 +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 2324857	NM_033411.5(RWDD2A):c.236G>A (p.Ser79Asn)	RWDD2A (S13N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233317	NM_033411.5(RWDD2A):c.277G>A (p.Glu93Lys)	RWDD2A (E93K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240127	NM_033411.5(RWDD2A):c.293A>G (p.Gln98Arg)	RWDD2A (Q32R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599985	NM_033411.5(RWDD2A):c.529G>A (p.Val177Ile)	RWDD2A (V111I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255791	NM_033411.5(RWDD2A):c.602A>G (p.Lys201Arg)	RWDD2A (K126R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411399	NM_033411.5(RWDD2A):c.644A>G (p.Asn215Ser)	RWDD2A (N140S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253659	NM_033411.5(RWDD2A):c.679G>A (p.Val227Met)	RWDD2A (V161M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255648	NM_033411.5(RWDD2A):c.790G>A (p.Gly264Ser)	RWDD2A (G264S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	KHDC1L, KHDC3L +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	ME1, PGM3 +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	DDX43, TMEM30A +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)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +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: 31