24050[HGNC] - ClinVar

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Items: 49

	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 58395	GRCh38/hg38 5q35.1-35.2(chr5:172776798-174342969)x1	ATP6V0E1, BNIP1 +91 more	Copy number loss	See cases	GPathogenic
Select item 58396	GRCh38/hg38 5q35.1-35.2(chr5:172961091-175054665)x1	ATP6V0E1, BNIP1 +81 more	Copy number loss	See cases	GPathogenic
Select item 3077357	NM_153607.3(CREBRF):c.460C>T (p.Leu154Phe)	CREBRF (L154F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776103	NM_153607.3(CREBRF):c.471C>T (p.Pro157=)	CREBRF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2318376	NM_153607.3(CREBRF):c.499C>A (p.Pro167Thr)	CREBRF (P167T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333911	NM_153607.3(CREBRF):c.500C>T (p.Pro167Leu)	CREBRF (P167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357747	NM_153607.3(CREBRF):c.560C>G (p.Ser187Cys)	CREBRF (S187C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077359	NM_153607.3(CREBRF):c.659A>T (p.Tyr220Phe)	CREBRF (Y220F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269469	NM_153607.3(CREBRF):c.678C>A (p.Asn226Lys)	CREBRF (N226K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077360	NM_153607.3(CREBRF):c.731C>T (p.Pro244Leu)	CREBRF (P244L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346293	NM_153607.3(CREBRF):c.745C>T (p.Arg249Trp)	CREBRF (R249W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312837	NM_153607.3(CREBRF):c.762G>C (p.Gln254His)	CREBRF (Q254H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348948	NM_153607.3(CREBRF):c.797A>G (p.Tyr266Cys)	CREBRF (Y266C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330571	NM_153607.3(CREBRF):c.806C>A (p.Ala269Glu)	CREBRF (A269E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344542	NM_153607.3(CREBRF):c.872C>T (p.Pro291Leu)	CREBRF (P291L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3027010	NM_153607.3(CREBRF):c.894A>G (p.Leu298=)	CREBRF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784062	NM_153607.3(CREBRF):c.930A>G (p.Ser310=)	CREBRF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2614599	NM_153607.3(CREBRF):c.971C>T (p.Ser324Leu)	CREBRF (S324L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077361	NM_153607.3(CREBRF):c.973G>C (p.Val325Leu)	CREBRF (V325L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269471	NM_153607.3(CREBRF):c.1001A>T (p.Glu334Val)	CREBRF (E334V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326876	NM_153607.3(CREBRF):c.1153G>A (p.Glu385Lys)	CREBRF (E385K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265528	NM_153607.3(CREBRF):c.1367A>G (p.Asn456Ser)	CREBRF (N456S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301235	NM_153607.3(CREBRF):c.1397A>G (p.Gln466Arg)	CREBRF (Q466R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490287	NM_153607.3(CREBRF):c.1441C>T (p.Arg481Trp)	CREBRF (R481W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269470	NM_153607.3(CREBRF):c.1570C>A (p.Pro524Thr)	CREBRF (P524T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077356	NM_153607.3(CREBRF):c.1795G>T (p.Asp599Tyr)	CREBRF (D599Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212049	NM_153607.3(CREBRF):c.1799C>T (p.Thr600Ile)	CREBRF (T600I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603891	NM_153607.3(CREBRF):c.1832A>C (p.Glu611Ala)	CREBRF (E611A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246450	NC_000005.9:g.(?_171765373)_(172550225_?)del	ATP6V0E1, CREBRF +6 more	Deletion	not provided	GPathogenic
Select item 3246360	NC_000005.9:g.(?_171765373)_(172662086_?)del	ATP6V0E1, BNIP1 +8 more	Deletion	Atrial septal defect 7	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 2425102	NC_000005.9:g.(?_172089144)_(172774583_?)del	ATP6V0E1, BNIP1 +8 more	Deletion	Atrial septal defect 7	GPathogenic
Select item 2423474	NC_000005.9:g.(?_171765373)_(172939426_?)dup	ATP6V0E1, BNIP1 +9 more	Duplication	not provided	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
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 1527205	GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)	ATP6V0E1, BNIP1 +35 more	Copy number loss	not specified	GPathogenic
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 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	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 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: 49