51738[geneid] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 148687	GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1	ATP2B2, ATP2B2-IT1 +58 more	Copy number loss	See cases	GPathogenic
Select item 57766	GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1	ATG7, ATP2B2 +79 more	Copy number loss	See cases	GPathogenic
Select item 155031	GRCh38/hg38 3p25.3(chr3:10220962-11165449)x1	ATP2B2, ATP2B2-IT1 +36 more	Copy number loss	See cases	GUncertain significance
Select item 1265406	NM_016362.5(GHRL):c.334+138T>G	GHRL, GHRLOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2319207	NM_016362.5(GHRL):c.314T>A (p.Ile105Asn)	GHRL, GHRLOS (I104N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281356	NM_016362.5(GHRL):c.280C>G (p.His94Asp)	GHRL, GHRLOS (H43D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 5063	NM_016362.5(GHRL):c.269A>T (p.Gln90Leu)	GHRL, GHRLOS (Q90L +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2402316	NM_016362.5(GHRL):c.265G>A (p.Val89Ile)	GHRL, GHRLOS (V77I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1696658	NM_016362.5(GHRL):c.255del (p.Lys85fs)	GHRL, GHRLOS (K34fs +4 more)	Deletion (frameshift variant)	Obesity	GUncertain significance
Select item 2381660	NM_016362.5(GHRL):c.239T>C (p.Phe80Ser)	GHRL, GHRLOS (F68S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1174428	NM_016362.5(GHRL):c.226-286C>T	GHRL, GHRLOS +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263639	NM_016362.5(GHRL):c.226-313A>G	GHRL, GHRLOS +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2653519	NM_016362.5(GHRL):c.225+2T>G	GHRL, GHRLOS	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 5062	NM_016362.5(GHRL):c.214C>A (p.Leu72Met)	GHRL, GHRLOS (L72M +3 more)	Single nucleotide variant (missense variant +1 more)	Obesity +1 more	GBenign/Likely benign
Select item 3099744	NM_016362.5(GHRL):c.202G>T (p.Ala68Ser)	GHRL, GHRLOS (A56S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1048933	NM_016362.5(GHRL):c.176C>T (p.Pro59Leu)	GHRL, GHRLOS (P46L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099743	NM_016362.5(GHRL):c.173G>A (p.Arg58His)	GHRL, GHRLOS (R57H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3099742	NM_016362.5(GHRL):c.167G>T (p.Trp56Leu)	GHRL, GHRLOS (W43L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 5061	NM_016362.5(GHRL):c.152G>A (p.Arg51Gln)	GHRL, GHRLOS (R51Q +3 more)	Single nucleotide variant (missense variant +1 more)	Obesity +1 more	Grisk factor
Select item 1271602	NM_016362.5(GHRL):c.109-36G>A	GHRL, GHRLOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2536361	NM_016362.5(GHRL):c.107A>G (p.Gln36Arg)	GHRL, GHRLOS (Q36R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099741	NM_016362.5(GHRL):c.101G>C (p.Arg34Thr)	GHRL, GHRLOS (R34T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604728	NM_016362.5(GHRL):c.83T>C (p.Leu28Pro)	GHRL, GHRLOS (L28P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483029	NM_016362.5(GHRL):c.-771G>A	GHRL, GHRLOS +1 more (V23I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3257263	NM_016362.5(GHRL):c.-787C>T	GHRL, GHRLOS +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 3338449	GRCh37/hg19 3p25.3(chr3:9974258-11078781)x1	ATP2B2, BRK1 +14 more	Copy number loss	Myoclonic-atonic epilepsy	GLikely pathogenic
Select item 3246963	NC_000003.11:g.(?_9470623)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +29 more	Duplication	not provided	GUncertain significance
Select item 3246936	NC_000003.11:g.(?_9703931)_(11078652_?)del	GHRLOS, IL17RC +27 more	Deletion	Myoclonic-atonic epilepsy	GPathogenic
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685906	GRCh37/hg19 3p25.3(chr3:9655252-10332544)x3	ARPC4, ARPC4-TTLL3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2580292	GRCh37/hg19 3p25.3-25.2(chr3:10167260-12533766)x1	ATG7, ATP2B2 +16 more	Copy number loss	See cases	GPathogenic
Select item 2424613	NC_000003.11:g.(?_10094051)_(11078652_?)del	ATP2B2, BRK1 +10 more	Deletion	Myoclonic-astatic epilepsy	GPathogenic
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1807689	GRCh37/hg19 3p25.3-25.2(chr3:10024917-11917048)x1	ATG7, ATP2B2 +15 more	Copy number loss	not provided	GPathogenic
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1373390	NC_000003.11:g.(?_7782024)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +38 more	Duplication	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 686271	GRCh37/hg19 3p25.3(chr3:10325353-10509129)x3	ATP2B2, GHRL +2 more	Copy number gain	not provided	GUncertain significance
Select item 635955	Single allele	BRPF1, IL17RE +33 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442264	GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1	ARL8B, ARPC4 +60 more	Copy number loss	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 253614	GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1	ARPC4, ARPC4-TTLL3 +39 more	Copy number loss	See cases	GPathogenic
Select item 5064	GHRL, 2-BP DEL, CODON 34	GHRL	Deletion	GHRELIN POLYMORPHISM	GBenign

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Items: 69