DAW1[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	LOC122861320, LOC122889004 +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 2465280	NM_178821.3(DAW1):c.20T>C (p.Leu7Pro)	DAW1 (L7P)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 733335	NM_178821.3(DAW1):c.21G>T (p.Leu7=)	DAW1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2393010	NM_178821.3(DAW1):c.68G>A (p.Gly23Glu)	DAW1 (G8E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208485	NM_178821.3(DAW1):c.124A>G (p.Ser42Gly)	DAW1 (S27G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3037571	NM_178821.3(DAW1):c.151G>A (p.Ala51Thr)	DAW1 (A36T +1 more)	Single nucleotide variant (missense variant +1 more)	DAW1-related condition	GLikely benign
Select item 1325693	NM_178821.3(DAW1):c.197T>A (p.Leu66Ter)	DAW1 (L51* +1 more)	Single nucleotide variant (nonsense +1 more)	Ciliary dyskinesia, primary, 52 +1 more	GPathogenic
Select item 2333223	NM_178821.3(DAW1):c.223G>A (p.Gly75Ser)	DAW1 (G75S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209020	NM_178821.3(DAW1):c.224G>A (p.Gly75Asp)	DAW1 (G75D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307061	NM_178821.3(DAW1):c.242C>T (p.Thr81Met)	DAW1 (T66M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217888	NM_178821.3(DAW1):c.352C>T (p.Leu118Phe)	DAW1 (L103F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1325691	NM_178821.3(DAW1):c.357G>A (p.Trp119Ter)	DAW1 (W104* +1 more)	Single nucleotide variant (nonsense +1 more)	Ciliary dyskinesia, primary, 52 +1 more	GPathogenic
Select item 2565526	NM_178821.3(DAW1):c.394G>A (p.Gly132Ser)	DAW1 (G117S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1325631	NM_178821.3(DAW1):c.427A>G (p.Asn143Asp)	DAW1 (N128D +1 more)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 52 +1 more	GPathogenic
Select item 2368672	NM_178821.3(DAW1):c.431A>G (p.Asn144Ser)	DAW1 (N129S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285434	NM_178821.3(DAW1):c.433C>T (p.Pro145Ser)	DAW1 (P145S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 783362	NM_178821.3(DAW1):c.541-9del	DAW1	Deletion (intron variant)	not provided	GBenign
Select item 2319456	NM_178821.3(DAW1):c.545G>T (p.Cys182Phe)	DAW1 (C167F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512937	NM_178821.3(DAW1):c.578C>T (p.Ala193Val)	DAW1 (A178V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065344	NM_178821.3(DAW1):c.593A>G (p.Asp198Gly)	DAW1 (D183G +1 more)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 52	GUncertain significance
Select item 2460432	NM_178821.3(DAW1):c.721C>T (p.His241Tyr)	DAW1 (H226Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209823	NM_178821.3(DAW1):c.934G>A (p.Asp312Asn)	DAW1 (D297N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409131	NM_178821.3(DAW1):c.968C>G (p.Ala323Gly)	DAW1 (A323G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549650	NM_178821.3(DAW1):c.971A>C (p.Asp324Ala)	DAW1 (D324A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253287	NM_178821.3(DAW1):c.979G>A (p.Ala327Thr)	DAW1 (A312T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277687	NM_178821.3(DAW1):c.985A>G (p.Ile329Val)	DAW1 (I314V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1325692	NM_178821.3(DAW1):c.1091G>C (p.Ser364Thr)	DAW1 (S349T +1 more)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 52 +1 more	GPathogenic
Select item 1325694	NM_178821.3(DAW1):c.1116G>T (p.Trp372Cys)	DAW1 (W357C +1 more)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 52 +1 more	GPathogenic
Select item 2349821	NM_178821.3(DAW1):c.1121C>T (p.Ala374Val)	DAW1 (A359V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2685881	GRCh37/hg19 2q36.3(chr2:228355418-229592972)x3	AGFG1, C2orf83 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2684964	GRCh37/hg19 2q36.3(chr2:228784976-229529739)x1	DAW1, SPHKAP	Copy number loss	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526955	GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)	ACSL3, AGFG1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980012	GRCh37/hg19 2q36.2-36.3(chr2:226027074-229110812)x1	SPHKAP, MFF +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	ACKR3, ACSL3 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic

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Items: 52