1125[HGNC] - ClinVar - NCBI

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Items: 15

	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 2229838	NM_001037637.2(BTF3):c.67C>A (p.Pro23Thr)	BTF3 (P23T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360264	NM_001037637.2(BTF3):c.71G>A (p.Gly24Glu)	BTF3 (G24E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262038	NM_001037637.2(BTF3):c.200A>G (p.Lys67Arg)	BTF3 (K23R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262039	NM_001037637.2(BTF3):c.238A>G (p.Thr80Ala)	BTF3 (T36A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545250	NM_001037637.2(BTF3):c.428T>C (p.Leu143Pro)	BTF3 (L143P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463207	NM_001037637.2(BTF3):c.547G>A (p.Gly183Arg)	BTF3 (G139R +1 more)	Single nucleotide variant (missense variant +1 more)	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 2684418	GRCh37/hg19 5q13.2-13.3(chr5:72551652-73317520)x3	ANKRA2, ARHGEF28 +3 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 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