728780[Gene ID] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 776047	NM_001276713.2(ANKDD1B):c.6C>G (p.Asp2Glu)	ANKDD1B (D2E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768006	NM_001276713.2(ANKDD1B):c.56_68del (p.Leu19fs)	ANKDD1B (L19fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 774178	NM_001276713.2(ANKDD1B):c.179C>A (p.Ala60Asp)	ANKDD1B (A60D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 715602	NM_001276713.2(ANKDD1B):c.542G>A (p.Arg181His)	ANKDD1B (R181H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 792000	NM_001276713.2(ANKDD1B):c.734A>G (p.His245Arg)	ANKDD1B (H245R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 792001	NM_001276713.2(ANKDD1B):c.875T>C (p.Val292Ala)	ANKDD1B (V292A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 791135	NM_001276713.2(ANKDD1B):c.954C>G (p.Asn318Lys)	ANKDD1B (N318K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 734732	NM_001276713.2(ANKDD1B):c.1384C>T (p.Gln462Ter)	ANKDD1B (Q462*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 718612	NM_001276713.2(ANKDD1B):c.1388G>A (p.Trp463Ter)	ANKDD1B (W463*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 719096	NM_001276713.2(ANKDD1B):c.1409G>A (p.Arg470His)	ANKDD1B (R470H)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 718613	NM_001276713.2(ANKDD1B):c.1483C>G (p.Leu495Val)	ANKDD1B (L495V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2423200	NC_000005.9:g.(?_73980960)_(75008762_?)dup	GFM2, HEXB +9 more	Duplication	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 686623	GRCh37/hg19 5q13.3(chr5:74892001-75161433)x1	ANKDD1B, POC5 +1 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563078	GRCh37/hg19 5q13.3(chr5:74734502-74937724)x3	ANKDD1B, CERT1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +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: 20