RUFY4[gene] - ClinVar

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Items: 73

	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 2371999	NM_198483.4(RUFY4):c.4G>A (p.Ala2Thr)	RUFY4 (A2T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651873	NM_198483.4(RUFY4):c.49G>A (p.Ala17Thr)	RUFY4 (A17T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3157175	NM_198483.4(RUFY4):c.65T>C (p.Leu22Pro)	RUFY4 (L22P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315788	NM_198483.4(RUFY4):c.112G>A (p.Glu38Lys)	RUFY4 (E38K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330399	NM_198483.4(RUFY4):c.188C>A (p.Pro63His)	RUFY4 (P63H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345602	NM_198483.4(RUFY4):c.191G>C (p.Arg64Pro)	RUFY4 (R64P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315784	NM_198483.4(RUFY4):c.229C>T (p.Arg77Trp)	RUFY4 (R77W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381682	NM_198483.4(RUFY4):c.244A>G (p.Met82Val)	RUFY4 (M82V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331834	NM_198483.4(RUFY4):c.317G>A (p.Arg106His)	RUFY4 (R106H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247950	NM_198483.4(RUFY4):c.332G>T (p.Arg111Leu)	RUFY4 (R111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329126	NM_198483.4(RUFY4):c.347A>T (p.Glu116Val)	RUFY4 (E116V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337259	NM_198483.4(RUFY4):c.379C>G (p.Leu127Val)	RUFY4 (L127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157172	NM_198483.4(RUFY4):c.398G>C (p.Gly133Ala)	RUFY4 (G133A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347565	NM_198483.4(RUFY4):c.428G>A (p.Arg143His)	RUFY4 (R143H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475643	NM_198483.4(RUFY4):c.478G>A (p.Glu160Lys)	RUFY4 (E160K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315787	NM_198483.4(RUFY4):c.479A>T (p.Glu160Val)	RUFY4 (E160V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393862	NM_198483.4(RUFY4):c.480G>T (p.Glu160Asp)	RUFY4 (E160D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3157174	NM_198483.4(RUFY4):c.501C>G (p.Asp167Glu)	RUFY4 (D167E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594560	NM_198483.4(RUFY4):c.553C>G (p.Gln185Glu)	RUFY4 (Q185E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603302	NM_198483.4(RUFY4):c.602T>G (p.Ile201Ser)	RUFY4 (I201S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223704	NM_198483.4(RUFY4):c.619G>A (p.Gly207Arg)	RUFY4 (G207R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2535415	NM_198483.4(RUFY4):c.637A>G (p.Ile213Val)	RUFY4 (I213V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321704	NM_198483.4(RUFY4):c.676G>A (p.Asp226Asn)	RUFY4 (D226N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157176	NM_198483.4(RUFY4):c.764G>T (p.Ser255Ile)	RUFY4 (S255I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651874	NM_198483.4(RUFY4):c.789G>C (p.Gln263His)	RUFY4 (Q263H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2294821	NM_198483.4(RUFY4):c.826G>A (p.Asp276Asn)	RUFY4 (D276N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471008	NM_198483.4(RUFY4):c.841G>A (p.Ala281Thr)	RUFY4 (A281T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3157177	NM_198483.4(RUFY4):c.902G>C (p.Gly301Ala)	RUFY4 (G301A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157178	NM_198483.4(RUFY4):c.904G>T (p.Ala302Ser)	RUFY4 (A302S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482715	NM_198483.4(RUFY4):c.997C>T (p.His333Tyr)	RUFY4 (H333Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411362	NM_198483.4(RUFY4):c.1007A>G (p.Glu336Gly)	RUFY4 (E336G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315790	NM_198483.4(RUFY4):c.1055G>C (p.Gly352Ala)	RUFY4 (G352A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315783	NM_198483.4(RUFY4):c.1154A>C (p.Asp385Ala)	RUFY4 (D385A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537200	NM_198483.4(RUFY4):c.1229C>A (p.Ser410Tyr)	RUFY4 (S410Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255670	NM_198483.4(RUFY4):c.1262G>A (p.Gly421Glu)	RUFY4 (G421E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388064	NM_198483.4(RUFY4):c.1268G>A (p.Arg423Gln)	RUFY4 (R423Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2318783	NM_198483.4(RUFY4):c.1276G>A (p.Glu426Lys)	RUFY4 (E426K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2261473	NM_198483.4(RUFY4):c.1310G>A (p.Arg437Lys)	RUFY4 (R437K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2226514	NM_198483.4(RUFY4):c.1310G>C (p.Arg437Thr)	RUFY4 (R437T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348451	NM_198483.4(RUFY4):c.1324G>C (p.Glu442Gln)	RUFY4 (E442Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315789	NM_198483.4(RUFY4):c.1339C>T (p.Arg447Trp)	RUFY4 (R447W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246956	NM_198483.4(RUFY4):c.1378C>G (p.Leu460Val)	RUFY4 (L460V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246957	NM_198483.4(RUFY4):c.1393G>A (p.Glu465Lys)	RUFY4 (E465K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157168	NM_198483.4(RUFY4):c.1448G>C (p.Gly483Ala)	RUFY4 (G483A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157170	NM_198483.4(RUFY4):c.1484G>A (p.Arg495Gln)	RUFY4 (R495Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315785	NM_198483.4(RUFY4):c.1519T>C (p.Trp507Arg)	RUFY4 (W507R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157171	NM_198483.4(RUFY4):c.1598G>A (p.Arg533Gln)	RUFY4 (R533Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651875	NM_198483.4(RUFY4):c.1677C>T (p.Cys559=)	RUFY4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	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 1526952	GRCh37/hg19 2q35(chr2:218210665-220141650)	AAMP, ABCB6 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	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 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	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 625776	GRCh37/hg19 2q35(chr2:218271898-219825640)	AAMP, ARPC2 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 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 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 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 226231	GRCh37/hg19 2q35(chr2:218647714-219053933)	TNS1, CXCR1 +2 more	Copy number gain	Abnormal esophagus morphology	GUncertain significance

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Items: 73