25758[HGNC] - ClinVar

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Items: 29

	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 2542391	NM_032175.4(UTP15):c.16C>A (p.Pro6Thr)	UTP15 (P6T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225514	NM_032175.4(UTP15):c.109G>A (p.Glu37Lys)	UTP15 (E37K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2473267	NM_032175.4(UTP15):c.146A>G (p.Gln49Arg)	UTP15 (Q49R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3331710	NM_032175.4(UTP15):c.157A>G (p.Asn53Asp)	UTP15 (N53D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489760	NM_032175.4(UTP15):c.164C>T (p.Ala55Val)	UTP15 (A55V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343863	NM_032175.4(UTP15):c.607G>A (p.Val203Ile)	UTP15 (V13I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275739	NM_032175.4(UTP15):c.630G>C (p.Glu210Asp)	UTP15 (E191D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187894	NM_032175.4(UTP15):c.650C>G (p.Ser217Cys)	UTP15 (S198C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600895	NM_032175.4(UTP15):c.749C>A (p.Thr250Asn)	UTP15 (T231N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257642	NM_032175.4(UTP15):c.757T>G (p.Cys253Gly)	UTP15 (C234G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610366	NM_032175.4(UTP15):c.782A>G (p.Gln261Arg)	UTP15 (Q242R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232562	NM_032175.4(UTP15):c.832A>G (p.Thr278Ala)	UTP15 (T88A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484452	NM_032175.4(UTP15):c.853A>G (p.Ser285Gly)	UTP15 (S95G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187895	NM_032175.4(UTP15):c.895C>T (p.His299Tyr)	UTP15 (H280Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331711	NM_032175.4(UTP15):c.916G>C (p.Val306Leu)	UTP15 (V116L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187896	NM_032175.4(UTP15):c.916G>A (p.Val306Ile)	UTP15 (V287I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378701	NM_032175.4(UTP15):c.1027A>C (p.Asn343His)	UTP15 (N324H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520645	NM_032175.4(UTP15):c.1114C>T (p.Arg372Trp)	UTP15 (R353W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187891	NM_032175.4(UTP15):c.1115G>A (p.Arg372Gln)	UTP15 (R353Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291550	NM_032175.4(UTP15):c.1202A>G (p.Asn401Ser)	UTP15 (N211S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187892	NM_032175.4(UTP15):c.1513C>T (p.His505Tyr)	UTP15 (H486Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 814694	GRCh37/hg19 5q13.2-13.3(chr5:72829994-74076751)x3	ANKRA2, FAM169A +6 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

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Items: 29