24323[HGNC] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 3024351	GRCh38/hg38 5q13.2(chr5:71378409-72329454)	BDP1, CARTPT +20 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 60262	GRCh38/hg38 5q13.2(chr5:71620401-71725140)x1	CARTPT, MCCC2	Copy number loss	See cases	GUncertain significance
Select item 1175702	NC_000005.10:g.71718885T>C	CARTPT	Single nucleotide variant	not provided	GBenign
Select item 1181943	NC_000005.10:g.71718901T>A	CARTPT	Single nucleotide variant	not provided	GBenign
Select item 1231380	NC_000005.10:g.71719119A>G	CARTPT	Single nucleotide variant	not provided	GBenign
Select item 3137469	NM_004291.4(CARTPT):c.7A>G (p.Ser3Gly)	CARTPT (S3G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331196	NM_004291.4(CARTPT):c.31C>A (p.Leu11Ile)	CARTPT (L11I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137470	NM_004291.4(CARTPT):c.91G>T (p.Ala31Ser)	CARTPT (A31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718146	NM_004291.4(CARTPT):c.94G>A (p.Glu32Lys)	CARTPT (E32K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1250951	NM_004291.4(CARTPT):c.159+172C>T	CARTPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183143	NM_004291.4(CARTPT):c.160-204A>G	CARTPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 6993	NM_004291.4(CARTPT):c.183G>C (p.Leu61Phe)	CARTPT (L61F)	Single nucleotide variant (missense variant)	Obesity	GUncertain significance
Select item 2240650	NM_004291.4(CARTPT):c.203G>A (p.Arg68His)	CARTPT (R68H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612003	NM_004291.4(CARTPT):c.212T>A (p.Ile71Asn)	CARTPT (I71N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 762928	NM_004291.4(CARTPT):c.270G>A (p.Val90=)	CARTPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2312658	NM_004291.4(CARTPT):c.334C>T (p.Leu112Phe)	CARTPT (L112F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1175375	NM_004291.4(CARTPT):c.*6C>G	CARTPT	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1290297	NM_004291.4(CARTPT):c.*21del	CARTPT	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1276629	NM_004291.4(CARTPT):c.*39A>G	CARTPT	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1237182	NM_004291.4(CARTPT):c.*77G>A	CARTPT	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1224262	NM_004291.4(CARTPT):c.*126C>A	CARTPT	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 1340684	GRCh37/hg19 5q13.2(chr5:70613836-71265263)x3	BDP1, CARTPT +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340564	GRCh37/hg19 5q13.2(chr5:70907495-71054732)x1	CARTPT, MCCC2	Copy number loss	not provided	GUncertain significance
Select item 688929	GRCh37/hg19 5q13.2(chr5:70986021-71494025)x3	CARTPT, MAP1B	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
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

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Items: 31