KGD4[gene] - ClinVar - NCBI

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Items: 19

	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 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 57512	GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1	ADAMTS6, AK6 +115 more	Copy number loss	See cases	GPathogenic
Select item 154729	GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3	AK6, CCDC125 +101 more	Copy number gain	See cases	GUncertain significance
Select item 2519088	NM_033281.6(KGD4):c.7G>A (p.Gly3Ser)	KGD4 (G3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288020	NM_033281.6(KGD4):c.56A>C (p.His19Pro)	KGD4 (H19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399907	NM_033281.6(KGD4):c.208C>T (p.Pro70Ser)	KGD4 (P70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235611	NM_033281.6(KGD4):c.247A>C (p.Lys83Gln)	KGD4 (K83Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207402	NM_033281.6(KGD4):c.292C>A (p.Gln98Lys)	KGD4 (Q98K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456698	NM_033281.6(KGD4):c.295C>T (p.Arg99Cys)	KGD4 (R99C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359383	NM_033281.6(KGD4):c.296G>A (p.Arg99His)	KGD4 (R99H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442841	GRCh37/hg19 5q13.1-13.2(chr5:68313021-68847066)x4	CCDC125, CCNB1 +8 more	Copy number gain	See cases	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 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, CCDC125 +39 more	Copy number gain	See cases	GLikely pathogenic
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