24955[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 58395	GRCh38/hg38 5q35.1-35.2(chr5:172776798-174342969)x1	ATP6V0E1, BNIP1 +91 more	Copy number loss	See cases	GPathogenic
Select item 58396	GRCh38/hg38 5q35.1-35.2(chr5:172961091-175054665)x1	ATP6V0E1, BNIP1 +81 more	Copy number loss	See cases	GPathogenic
Select item 154580	GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3	ARL10, BOD1 +131 more	Copy number gain	See cases	GPathogenic
Select item 146333	GRCh38/hg38 5q35.2(chr5:173949773-174900395)x1	C5orf47, CPEB4 +16 more	Copy number loss	See cases	GPathogenic
Select item 2520548	NM_015980.5(NSG2):c.17G>C (p.Ser6Thr)	NSG2 (S6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202359	NM_015980.5(NSG2):c.28G>A (p.Glu10Lys)	NSG2 (E10K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301148	NM_015980.5(NSG2):c.59A>T (p.Asp20Val)	NSG2 (D20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202358	NM_015980.5(NSG2):c.104A>T (p.His35Leu)	NSG2 (H35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556690	NM_015980.5(NSG2):c.161C>A (p.Pro54Gln)	NSG2 (P54Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463236	NM_015980.5(NSG2):c.212C>T (p.Thr71Met)	NSG2 (T71M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202360	NM_015980.5(NSG2):c.443G>A (p.Arg148Gln)	NSG2 (R148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202361	NM_015980.5(NSG2):c.488C>A (p.Pro163His)	NSG2 (P163H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202362	NM_015980.5(NSG2):c.494C>T (p.Pro165Leu)	NSG2 (P165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547941	NM_015980.5(NSG2):c.496C>A (p.Pro166Thr)	NSG2 (P166T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance