WDFY1[gene] - ClinVar

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Search results

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 146029	GRCh38/hg38 2q36.1-36.2(chr2:221663502-224426183)x1	ACSL3, ACSL3-AS1 +75 more	Copy number loss	See cases	GPathogenic
Select item 58846	GRCh38/hg38 2q36.1(chr2:223597428-224061556)x1	AP1S3, LOC112840902 +29 more	Copy number loss	See cases	GPathogenic
Select item 2390093	NM_020830.5(WDFY1):c.1211C>T (p.Ala404Val)	WDFY1 (A361V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382086	NM_020830.5(WDFY1):c.1136G>A (p.Gly379Glu)	WDFY1 (G379E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332629	NM_020830.5(WDFY1):c.1102A>G (p.Asn368Asp)	WDFY1 (N368D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355230	NM_020830.5(WDFY1):c.967G>C (p.Gly323Arg)	WDFY1 (G280R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221389	NM_020830.5(WDFY1):c.967G>A (p.Gly323Arg)	WDFY1 (G280R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332627	NM_020830.5(WDFY1):c.817G>A (p.Val273Ile)	WDFY1 (V273I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595622	NM_020830.5(WDFY1):c.793G>A (p.Gly265Arg)	WDFY1 (G222R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465781	NM_020830.5(WDFY1):c.772G>A (p.Val258Ile)	WDFY1 (V258I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189717	NM_020830.5(WDFY1):c.740C>T (p.Ser247Leu)	WDFY1 (S204L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237745	NM_020830.5(WDFY1):c.703A>G (p.Thr235Ala)	WDFY1 (T235A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287766	NM_020830.5(WDFY1):c.448G>A (p.Gly150Arg)	WDFY1 (G107R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410269	NM_020830.5(WDFY1):c.427A>G (p.Thr143Ala)	WDFY1 (T100A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332628	NM_020830.5(WDFY1):c.418T>C (p.Trp140Arg)	WDFY1 (W140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189716	NM_020830.5(WDFY1):c.416G>A (p.Ser139Asn)	WDFY1 (S96N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189715	NM_020830.5(WDFY1):c.324G>T (p.Lys108Asn)	WDFY1 (K65N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483819	NM_020830.5(WDFY1):c.322A>G (p.Lys108Glu)	WDFY1 (K108E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189714	NM_020830.5(WDFY1):c.286C>T (p.His96Tyr)	WDFY1 (H53Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383359	NM_020830.5(WDFY1):c.230A>G (p.His77Arg)	WDFY1 (H77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189713	NM_020830.5(WDFY1):c.224C>T (p.Ala75Val)	WDFY1 (A75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312000	NM_020830.5(WDFY1):c.201G>T (p.Met67Ile)	WDFY1 (M67I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189712	NM_020830.5(WDFY1):c.163G>A (p.Asp55Asn)	WDFY1 (D55N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411799	NM_020830.5(WDFY1):c.146G>A (p.Arg49Gln)	WDFY1 (R49Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353713	NM_020830.5(WDFY1):c.94C>G (p.Leu32Val)	WDFY1 (L32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542393	NM_020830.5(WDFY1):c.82A>T (p.Thr28Ser)	WDFY1 (T28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327662	NM_020830.5(WDFY1):c.20C>G (p.Ser7Cys)	WDFY1 (S7C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	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 1703585	GRCh37/hg19 2q36.1-36.2(chr2:222902251-226084516)	ACSL3, AP1S3 +13 more	Copy number loss	Waardenburg syndrome type 1	GPathogenic
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 1526956	GRCh37/hg19 2q36.1(chr2:224487310-224882397)	AP1S3, MRPL44 +2 more	Copy number gain	not specified	GUncertain significance
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 1434117	NC_000002.11:g.(?_224623432)_(225449726_?)dup	AP1S3, CUL3 +4 more	Duplication	not provided	GUncertain significance
Select item 1180532	GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1	PTPRN, RESP18 +36 more	Copy number loss	not provided	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 980009	GRCh37/hg19 2q36.1(chr2:222621434-224754689)x1	MOGAT1, KCNE4 +8 more	Copy number loss	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	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 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 562669	GRCh37/hg19 2q35-36.2(chr2:220614743-225587770)x1	PAX3, FAM124B +13 more	Copy number loss	not provided	GPathogenic
Select item 562666	GRCh37/hg19 2q35-36.3(chr2:221439250-226170404)x1	SGPP2, MRPL44 +14 more	Copy number loss	not provided	GPathogenic
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +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
Select item 426094	t(2;14)(q36.1;q12)	WDFY1, FOXG1	Translocation	Rett syndrome, congenital variant	GPathogenic

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Items: 58