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	CCDC69, CCNH +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 94