ClinVar for Gene (Select 84240) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3192575	NM_001131035.2(ZCCHC9):c.496G>C (p.Glu166Gln)	ACOT12, ZCCHC9 (E166Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192574	NM_001131035.2(ZCCHC9):c.299G>T (p.Arg100Met)	ZCCHC9 (R100M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192572	NM_001131035.2(ZCCHC9):c.281C>G (p.Thr94Arg)	ZCCHC9 (T94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192571	NM_001131035.2(ZCCHC9):c.206A>G (p.Asn69Ser)	ZCCHC9 (N69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619897	NM_001131035.2(ZCCHC9):c.652T>C (p.Ser218Pro)	ACOT12, ZCCHC9 (S218P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619896	NM_001131035.2(ZCCHC9):c.612A>T (p.Lys204Asn)	ACOT12, ZCCHC9 (K204N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519312	NM_001131035.2(ZCCHC9):c.250C>A (p.Gln84Lys)	ZCCHC9 (Q84K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508219	NM_001131035.2(ZCCHC9):c.116G>A (p.Arg39His)	ZCCHC9 (R39H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2407214	NM_001131035.2(ZCCHC9):c.245A>G (p.Asn82Ser)	ZCCHC9 (N82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371555	NM_001131035.2(ZCCHC9):c.195A>C (p.Lys65Asn)	ZCCHC9 (K65N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361079	NM_001131035.2(ZCCHC9):c.527C>T (p.Pro176Leu)	ACOT12, ZCCHC9 (P176L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229935	NM_001131035.2(ZCCHC9):c.634G>A (p.Gly212Ser)	ACOT12, ZCCHC9 (G212S)	Single nucleotide variant (missense variant)	not specified	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 687686	GRCh37/hg19 5q14.1(chr5:80501001-80600333)x3	CKMT2, RASGRF2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 684903	GRCh37/hg19 5q14.1(chr5:79664621-80767791)x3	RASGRF2, SSBP2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563081	GRCh37/hg19 5q14.1(chr5:79625636-80884586)x3	FAM151B, MSH3 +9 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
Select item 395343	GRCh37/hg19 5q14.1(chr5:79678575-80868550)x3	ACOT12, ANKRD34B +9 more	Copy number gain	See cases	GUncertain significance
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 22