2356[HGNC] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 2289049	NM_001882.4(CRHBP):c.40A>G (p.Ile14Val)	CRHBP (I14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288552	NM_001882.4(CRHBP):c.149G>C (p.Gly50Ala)	CRHBP (G50A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711390	NM_001882.4(CRHBP):c.159G>A (p.Pro53=)	CRHBP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3077407	NM_001882.4(CRHBP):c.176G>A (p.Arg59Gln)	CRHBP (R59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077408	NM_001882.4(CRHBP):c.223G>A (p.Asp75Asn)	CRHBP (D75N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077409	NM_001882.4(CRHBP):c.227G>T (p.Arg76Leu)	CRHBP (R76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269493	NM_001882.4(CRHBP):c.240C>G (p.His80Gln)	CRHBP (H80Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773933	NM_001882.4(CRHBP):c.267C>G (p.Pro89=)	CRHBP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2317345	NM_001882.4(CRHBP):c.292G>C (p.Asp98His)	CRHBP (D98H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077410	NM_001882.4(CRHBP):c.368T>C (p.Phe123Ser)	CRHBP (F123S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077411	NM_001882.4(CRHBP):c.673G>A (p.Val225Ile)	CRHBP (V225I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265784	NM_001882.4(CRHBP):c.706G>A (p.Gly236Ser)	CRHBP (G236S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269492	NM_001882.4(CRHBP):c.712G>C (p.Glu238Gln)	CRHBP (E238Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514468	NM_001882.4(CRHBP):c.720A>G (p.Ile240Met)	CRHBP (I240M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609905	NM_001882.4(CRHBP):c.880G>T (p.Val294Leu)	CRHBP (V294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394953	NM_001882.4(CRHBP):c.913G>A (p.Glu305Lys)	CRHBP (E305K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424719	NC_000005.9:g.(?_76115008)_(78281071_?)del	AGGF1, AP3B1 +11 more	Deletion	Hermansky-Pudlak syndrome 2	GPathogenic
Select item 1808746	GRCh37/hg19 5q13.3(chr5:76239549-76720244)x3	AGGF1, CRHBP +2 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563080	GRCh37/hg19 5q13.3(chr5:76159960-76718626)x3	AGGF1, CRHBP +3 more	Copy number gain	not provided	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: 25