81848[geneid] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147816	GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	ARAP3, DELE1 +123 more	Copy number loss	See cases	GUncertain significance
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 1292770	NM_001127496.3(SPRY4):c.*181G>A	SPRY4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1227299	NM_001127496.3(SPRY4):c.*98G>C	SPRY4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2575861	NM_001127496.3(SPRY4):c.892C>G (p.Pro298Ala)	SPRY4 (P298A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663549	NM_001127496.3(SPRY4):c.886G>A (p.Asp296Asn)	SPRY4 (D296N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906084	NM_001127496.3(SPRY4):c.885C>T (p.Pro295=)	SPRY4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2086379	NM_001127496.3(SPRY4):c.878G>A (p.Ser293Asn)	SPRY4 (S293N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2535734	NM_001127496.3(SPRY4):c.862G>A (p.Gly288Arg)	SPRY4 (G288R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216014	NM_001127496.3(SPRY4):c.845T>C (p.Ile282Thr)	SPRY4 (I305T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 50873	NM_001127496.3(SPRY4):c.841G>A (p.Val281Ile)	SPRY4 (V304I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2221004	NM_001127496.3(SPRY4):c.832A>G (p.Thr278Ala)	SPRY4 (T301A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3354470	NM_001127496.3(SPRY4):c.820C>A (p.Arg274Ser)	SPRY4 (R274S +1 more)	Single nucleotide variant (missense variant)	SPRY4-related disorder	GUncertain significance
Select item 2500630	NM_001127496.3(SPRY4):c.819C>G (p.Cys273Trp)	SPRY4 (C273W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050887	NM_001127496.3(SPRY4):c.800G>A (p.Arg267His)	SPRY4 (R290H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2513773	NM_001127496.3(SPRY4):c.788G>A (p.Arg263His)	SPRY4 (R263H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1199399	NM_001127496.3(SPRY4):c.778C>A (p.Leu260Met)	SPRY4 (L260M +1 more)	Single nucleotide variant (missense variant)	Disorder of sexual differentiation	GUncertain significance
Select item 2052425	NM_001127496.3(SPRY4):c.772G>A (p.Val258Met)	SPRY4 (V258M +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2602491	NM_001127496.3(SPRY4):c.727G>A (p.Val243Met)	SPRY4 (V243M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778220	NM_001127496.3(SPRY4):c.726C>T (p.Ser242=)	SPRY4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2162627	NM_001127496.3(SPRY4):c.697G>A (p.Ala233Thr)	SPRY4 (A256T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1581331	NM_001127496.3(SPRY4):c.696C>T (p.Cys232=)	SPRY4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2592711	NM_001127496.3(SPRY4):c.682C>T (p.Arg228Cys)	SPRY4 (R228C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3349993	NM_001127496.3(SPRY4):c.666C>A (p.His222Gln)	SPRY4 (H222Q +1 more)	Single nucleotide variant (missense variant)	SPRY4-related disorder	GUncertain significance
Select item 795848	NM_001127496.3(SPRY4):c.666C>T (p.His222=)	SPRY4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1354009	NM_001127496.3(SPRY4):c.658G>A (p.Ala220Thr)	SPRY4 (A243T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987169	NM_001127496.3(SPRY4):c.657C>T (p.Cys219=)	SPRY4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 50874	NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr)	SPRY4 (S241Y +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2492097	NM_001127496.3(SPRY4):c.643G>A (p.Asp215Asn)	SPRY4 (D215N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1906800	NM_001127496.3(SPRY4):c.629G>T (p.Cys210Phe)	SPRY4 (C233F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041442	NM_001127496.3(SPRY4):c.594G>A (p.Thr198=)	SPRY4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727536	NM_001127496.3(SPRY4):c.557G>A (p.Cys186Tyr)	SPRY4 (C186Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2174580	NM_001127496.3(SPRY4):c.518C>A (p.Pro173His)	SPRY4 (P196H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071474	NM_001127496.3(SPRY4):c.516C>G (p.Ser172=)	SPRY4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3029350	NM_001127496.3(SPRY4):c.492G>A (p.Lys164=)	SPRY4	Single nucleotide variant (synonymous variant)	SPRY4-related disorder	GLikely benign
Select item 3169424	NM_001127496.3(SPRY4):c.478G>A (p.Glu160Lys)	SPRY4 (E160K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2899594	NM_001127496.3(SPRY4):c.477C>T (p.Cys159=)	SPRY4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 50872	NM_001127496.3(SPRY4):c.461A>G (p.Lys154Arg)	SPRY4 (K177R +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 723177	NM_001127496.3(SPRY4):c.450C>T (p.Pro150=)	SPRY4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903373	NM_001127496.3(SPRY4):c.449C>A (p.Pro150His)	SPRY4 (P150H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3039629	NM_001127496.3(SPRY4):c.438G>A (p.Pro146=)	SPRY4	Single nucleotide variant (synonymous variant)	SPRY4-related disorder	GLikely benign
Select item 2634946	NM_001127496.3(SPRY4):c.437C>T (p.Pro146Leu)	SPRY4 (P146L +1 more)	Single nucleotide variant (missense variant)	SPRY4-related disorder +1 more	GUncertain significance
Select item 2395327	NM_001127496.3(SPRY4):c.434G>A (p.Gly145Asp)	SPRY4 (G168D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1305355	NM_001127496.3(SPRY4):c.401A>G (p.Lys134Arg)	SPRY4 (K134R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2215493	NM_001127496.3(SPRY4):c.389G>A (p.Arg130His)	SPRY4 (R130H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2419869	NM_001127496.3(SPRY4):c.388C>T (p.Arg130Cys)	SPRY4 (R130C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347492	NM_001127496.3(SPRY4):c.377C>G (p.Pro126Arg)	SPRY4 (P126R +1 more)	Single nucleotide variant (missense variant)	SPRY4-related disorder	GUncertain significance
Select item 2415299	NM_001127496.3(SPRY4):c.280G>A (p.Gly94Arg)	SPRY4 (G117R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582723	NM_001127496.3(SPRY4):c.278G>A (p.Ser93Asn)	SPRY4 (S116N +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 17 with or without anosmia	GUncertain significance
Select item 2850129	NM_001127496.3(SPRY4):c.271T>C (p.Ser91Pro)	SPRY4 (S91P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003566	NM_001127496.3(SPRY4):c.259C>A (p.His87Asn)	SPRY4 (H110N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1596554	NM_001127496.3(SPRY4):c.244G>A (p.Asp82Asn)	SPRY4 (D105N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 727815	NM_001127496.3(SPRY4):c.237C>T (p.Ala79=)	SPRY4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2410550	NM_001127496.3(SPRY4):c.235G>A (p.Ala79Thr)	SPRY4 (A102T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731541	NM_001127496.3(SPRY4):c.231G>A (p.Thr77=)	SPRY4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2081087	NM_001127496.3(SPRY4):c.230C>T (p.Thr77Met)	SPRY4 (T77M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3051564	NM_001127496.3(SPRY4):c.228G>A (p.Pro76=)	SPRY4	Single nucleotide variant (synonymous variant)	SPRY4-related disorder	GLikely benign
Select item 1344747	NM_001127496.3(SPRY4):c.206G>T (p.Gly69Val)	SPRY4 (G69V +1 more)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 2407115	NM_001127496.3(SPRY4):c.203G>A (p.Arg68Gln)	SPRY4 (R68Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209769	NM_001127496.3(SPRY4):c.196C>T (p.Arg66Trp)	SPRY4 (R66W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 425357	NM_001127496.3(SPRY4):c.188G>A (p.Gly63Asp)	SPRY4 (G86D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3032883	NM_001127496.3(SPRY4):c.186C>T (p.Thr62=)	SPRY4	Single nucleotide variant (synonymous variant)	SPRY4-related disorder	GLikely benign
Select item 2182036	NM_001127496.3(SPRY4):c.183C>T (p.Thr61=)	SPRY4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2389862	NM_001127496.3(SPRY4):c.182C>T (p.Thr61Ile)	SPRY4 (T84I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2955877	NM_001127496.3(SPRY4):c.96G>A (p.Gln32=)	SPRY4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740454	NM_001127496.3(SPRY4):c.88C>T (p.Arg30Trp)	SPRY4 (R30W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 743495	NM_001127496.3(SPRY4):c.60C>T (p.Pro20=)	SPRY4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3032389	NM_001127496.3(SPRY4):c.57G>A (p.Gln19=)	SPRY4	Single nucleotide variant (synonymous variant)	SPRY4-related disorder	GLikely benign
Select item 50875	NM_001127496.3(SPRY4):c.46G>A (p.Val16Ile)	SPRY4 (V16I +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 17 with or without anosmia	GPathogenic
Select item 727400	NM_001127496.3(SPRY4):c.25G>A (p.Ala9Thr)	SPRY4 (A9T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 795063	NM_001127496.3(SPRY4):c.24C>T (p.Ser8=)	SPRY4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166121	NM_001127496.3(SPRY4):c.12G>A (p.Pro4=)	SPRY4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2060989	NM_001127496.3(SPRY4):c.-24G>A	SPRY4 (V16I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1598918	NM_001127496.3(SPRY4):c.-25C>T	SPRY4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1594431	NM_001127496.3(SPRY4):c.-28C>T	SPRY4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3322385	NM_001127496.3(SPRY4):c.-45C>T	SPRY4 (P9S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2339737	NM_001127496.3(SPRY4):c.-47G>C	SPRY4 (G8A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1332906	NM_001127496.3(SPRY4):c.-47-4598C>G	SPRY4 (L5V)	Single nucleotide variant (5 prime UTR variant +2 more)	See cases	GUncertain significance
Select item 3042503	NM_001127496.3(SPRY4):c.-47-4618G>A	SPRY4	Single nucleotide variant (5 prime UTR variant +1 more)	SPRY4-related disorder	GLikely benign
Select item 1262633	NM_001127496.3(SPRY4):c.-47-4672C>T	SPRY4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3062812	GRCh37/hg19 5q31.3-32(chr5:141566629-147240595)x1	ARHGAP26, DPYSL3 +19 more	Copy number loss	not specified	GPathogenic
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, ARB2A +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	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 442272	GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1	ABLIM3, ADRB2 +48 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

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Items: 94