RNF44[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 154580	GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3	ARL10, BOD1 +131 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58122	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	FAM153A, FAM153B +176 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154297	GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59300	GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59301	GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1	LOC129995374, LOC129995375 +136 more	Copy number loss	See cases	GPathogenic
Select item 154443	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1	ARL10, B4GALT7 +142 more	Copy number loss	See cases	GPathogenic
Select item 57051	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1	ARL10, CDHR2 +129 more	Copy number loss	See cases	GPathogenic
Select item 155396	GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1	ARL10, B4GALT7 +141 more	Copy number loss	See cases	GPathogenic
Select item 59634	GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3	ARL10, B4GALT7 +137 more	Copy number gain	See cases	GPathogenic
Select item 59303	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1	ARL10, B4GALT7 +134 more	Copy number loss	See cases	GPathogenic
Select item 59302	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1	ARL10, B4GALT7 +140 more	Copy number loss	See cases	GPathogenic
Select item 153772	GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1	ARL10, B4GALT7 +172 more	Copy number loss	See cases	GPathogenic
Select item 2579264	GRCh38/hg38 5q35.2-35.3(chr5:176447531-177312407)x1	LOC129995352, LOC129995353 +65 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 1707460	Single allele	CDHR2, EIF4E1B +71 more	Duplication	5q35 microduplication syndrome	GPathogenic
Select item 154471	GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1	B4GALT7, CDHR2 +113 more	Copy number loss	See cases	GPathogenic
Select item 2406262	NM_014901.5(RNF44):c.1270G>C (p.Ala424Pro)	RNF44 (A424P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320973	NM_014901.5(RNF44):c.1244G>A (p.Arg415Gln)	RNF44 (R415Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523315	NM_014901.5(RNF44):c.1162G>A (p.Glu388Lys)	RNF44 (E388K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719431	NM_014901.5(RNF44):c.1125G>A (p.Ser375=)	RNF44	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2301002	NM_014901.5(RNF44):c.1120C>G (p.Gln374Glu)	RNF44 (Q374E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280393	NM_014901.5(RNF44):c.1100G>A (p.Arg367His)	RNF44 (R367H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155446	NM_014901.5(RNF44):c.1079T>C (p.Ile360Thr)	RNF44 (I360T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155444	NM_014901.5(RNF44):c.1078A>G (p.Ile360Val)	RNF44 (I360V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268303	NM_014901.5(RNF44):c.1057C>T (p.Arg353Trp)	RNF44 (R353W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334495	NM_014901.5(RNF44):c.872C>T (p.Pro291Leu)	RNF44 (P291L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333821	NM_014901.5(RNF44):c.835A>G (p.Thr279Ala)	RNF44 (T279A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337166	NM_014901.5(RNF44):c.819G>A (p.Met273Ile)	RNF44 (M273I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326345	NM_014901.5(RNF44):c.797G>A (p.Gly266Asp)	RNF44 (G266D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383846	NM_014901.5(RNF44):c.769G>A (p.Asp257Asn)	RNF44 (D257N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155459	NM_014901.5(RNF44):c.740C>T (p.Pro247Leu)	RNF44 (P247L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507968	NM_014901.5(RNF44):c.664G>A (p.Val222Met)	RNF44 (V222M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363843	NM_014901.5(RNF44):c.650G>A (p.Arg217Gln)	RNF44 (R217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155458	NM_014901.5(RNF44):c.649C>T (p.Arg217Trp)	RNF44 (R217W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314923	NM_014901.5(RNF44):c.643C>T (p.Leu215Phe)	RNF44 (L215F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155457	NM_014901.5(RNF44):c.637A>T (p.Met213Leu)	RNF44 (M213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155456	NM_014901.5(RNF44):c.595C>T (p.Pro199Ser)	RNF44 (P199S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477387	NM_014901.5(RNF44):c.572C>A (p.Pro191His)	RNF44 (P191H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3155455	NM_014901.5(RNF44):c.542A>T (p.Tyr181Phe)	RNF44 (Y181F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465728	NM_014901.5(RNF44):c.532A>G (p.Ser178Gly)	RNF44 (S178G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155454	NM_014901.5(RNF44):c.512C>T (p.Ala171Val)	RNF44 (A171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155453	NM_014901.5(RNF44):c.394G>A (p.Ala132Thr)	RNF44 (A132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607854	NM_014901.5(RNF44):c.373C>G (p.Gln125Glu)	RNF44 (Q125E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314924	NM_014901.5(RNF44):c.329C>T (p.Thr110Met)	RNF44 (T110M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612429	NM_014901.5(RNF44):c.316C>T (p.Pro106Ser)	RNF44 (P106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155451	NM_014901.5(RNF44):c.307G>A (p.Gly103Arg)	RNF44 (G103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155450	NM_014901.5(RNF44):c.277A>G (p.Met93Val)	RNF44 (M93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545488	NM_014901.5(RNF44):c.233G>A (p.Gly78Glu)	RNF44 (G78E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399068	NM_014901.5(RNF44):c.218C>T (p.Ser73Leu)	RNF44 (S73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562107	NM_014901.5(RNF44):c.217T>G (p.Ser73Ala)	RNF44 (S73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601590	NM_014901.5(RNF44):c.212G>A (p.Arg71Gln)	RNF44 (R71Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155449	NM_014901.5(RNF44):c.209G>A (p.Arg70His)	RNF44 (R70H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2390308	NM_014901.5(RNF44):c.208C>T (p.Arg70Cys)	RNF44 (R70C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519163	NM_014901.5(RNF44):c.199G>A (p.Val67Ile)	RNF44 (V67I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365646	NM_014901.5(RNF44):c.196C>T (p.Pro66Ser)	RNF44 (P66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265270	NM_014901.5(RNF44):c.190C>T (p.His64Tyr)	RNF44 (H64Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314925	NM_014901.5(RNF44):c.182G>A (p.Arg61Gln)	RNF44 (R61Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265424	NM_014901.5(RNF44):c.154C>T (p.Arg52Cys)	RNF44 (R52C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155447	NM_014901.5(RNF44):c.149A>G (p.Asp50Gly)	RNF44 (D50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288185	NM_014901.5(RNF44):c.145C>T (p.Arg49Trp)	RNF44 (R49W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370186	NM_014901.5(RNF44):c.80G>A (p.Gly27Asp)	RNF44 (G27D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350105	NM_014901.5(RNF44):c.80G>T (p.Gly27Val)	RNF44 (G27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389357	NM_014901.5(RNF44):c.43G>A (p.Ala15Thr)	RNF44 (A15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242320	GRCh37/hg19 5q35.2-35.3(chr5:175470000-177450000)x1	ARL10, B4GALT7 +37 more	Copy number loss	not provided	GPathogenic
Select item 3062859	GRCh37/hg19 5q35.2(chr5:175822822-176520008)x1	CDHR2, CLTB +11 more	Copy number loss	not specified	GUncertain significance
Select item 2685186	GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1	ARL10, B4GALT7 +38 more	Copy number loss	not provided	GPathogenic
Select item 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
Select item 2671584	Single allele	FAM193B, GPRIN1 +36 more	Deletion	not provided	GPathogenic
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	PDLIM7, PFN3 +63 more	Duplication	not provided	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1340428	GRCh37/hg19 5q35.2(chr5:175668563-176182615)x3	ARL10, CDHR2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 979537	GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3	ARL10, B4GALT7 +38 more	Copy number gain	not provided	GPathogenic
Select item 979536	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)x3	ARL10, B4GALT7 +34 more	Copy number gain	not provided	GPathogenic
Select item 975831	GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1	ARL10, B4GALT7 +38 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 690278	Single allele	UNC5A, ZNF346 +28 more	Deletion	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 685440	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3	ARL10, B4GALT7 +36 more	Copy number gain	not provided	GPathogenic
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 563128	GRCh37/hg19 5q35.2(chr5:175668563-176401296)x1	TSPAN17, EIF4E1B +14 more	Copy number loss	not provided	GUncertain significance
Select item 563126	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1	ARL10, B4GALT7 +36 more	Copy number loss	not provided	GPathogenic
Select item 563125	GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1	ARL10, B4GALT7 +37 more	Copy number loss	not provided	GPathogenic
Select item 443960	GRCh37/hg19 5q35.2-35.3(chr5:175570678-177437340)x1	ARL10, B4GALT7 +36 more	Copy number loss	See cases	GPathogenic
Select item 443249	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3	ARL10, B4GALT7 +36 more	Copy number gain	See cases	GPathogenic
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442010	GRCh37/hg19 5q35.2-35.3(chr5:175438045-177392885)x1	ARL10, B4GALT7 +36 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 394090	GRCh37/hg19 5q35.2-35.3(chr5:175722788-177423091)x3	ARL10, B4GALT7 +36 more	Copy number gain	See cases	GPathogenic
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	See cases	GPathogenic

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Items: 100