ClinVar for Gene (Select 80328) - ClinVar

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

Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330913	NM_025217.4(ULBP2):c.316C>G (p.Arg106Gly)	ULBP2 (R106G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330912	NM_025217.4(ULBP2):c.275C>G (p.Pro92Arg)	ULBP2 (P92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186312	NM_025217.4(ULBP2):c.668G>A (p.Arg223Lys)	ULBP2 (R223K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186311	NM_025217.4(ULBP2):c.619C>A (p.Pro207Thr)	ULBP2 (P207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186310	NM_025217.4(ULBP2):c.568T>C (p.Cys190Arg)	ULBP2 (C190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186308	NM_025217.4(ULBP2):c.254C>T (p.Thr85Met)	ULBP2 (T85M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186307	NM_025217.4(ULBP2):c.152C>T (p.Ala51Val)	ULBP2 (A51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2684457	GRCh37/hg19 6q25.1(chr6:150127440-150330806)x3	LRP11, PCMT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2610438	NM_025217.4(ULBP2):c.217C>G (p.Pro73Ala)	ULBP2 (P73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558490	NM_025217.4(ULBP2):c.472T>C (p.Trp158Arg)	ULBP2 (W158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407234	NM_025217.4(ULBP2):c.167T>A (p.Val56Glu)	ULBP2 (V56E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369304	NM_025217.4(ULBP2):c.59C>T (p.Ser20Phe)	ULBP2 (S20F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356961	NM_025217.4(ULBP2):c.513G>T (p.Lys171Asn)	ULBP2 (K171N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346919	NM_025217.4(ULBP2):c.479C>T (p.Thr160Met)	ULBP2 (T160M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320738	NM_025217.4(ULBP2):c.443T>C (p.Phe148Ser)	ULBP2 (F148S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309292	NM_025217.4(ULBP2):c.530T>C (p.Val177Ala)	ULBP2 (V177A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307230	NM_025217.4(ULBP2):c.562G>A (p.Gly188Arg)	ULBP2 (G188R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276663	NM_025217.4(ULBP2):c.497G>A (p.Arg166Lys)	ULBP2 (R166K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244800	NM_025217.4(ULBP2):c.544T>C (p.Phe182Leu)	ULBP2 (F182L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216654	NM_025217.4(ULBP2):c.599G>A (p.Gly200Asp)	ULBP2 (G200D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207647	NM_025217.4(ULBP2):c.569G>A (p.Cys190Tyr)	ULBP2 (C190Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 814879	GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1	AKAP12, ARMT1 +31 more	Copy number loss	not provided	GPathogenic
Select item 776171	NM_025217.4(ULBP2):c.650C>T (p.Ser217Leu)	ULBP2 (S217L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769697	NM_025217.4(ULBP2):c.709A>C (p.Ile237Leu)	ULBP2 (I237L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 747387	NM_025217.4(ULBP2):c.429C>T (p.Phe143=)	ULBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 638121	GRCh37/hg19 6q24.3-25.1(chr6:148690764-150494873)x1	GINM1, KATNA1 +17 more	Copy number loss	See cases	GPathogenic
Select item 563240	GRCh37/hg19 6q24.2-25.1(chr6:144947731-150266155)x1	ADGB, EPM2A +22 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 149317	GRCh38/hg38 6q24.3-25.1(chr6:147580351-150227963)x3	GINM1, KATNA1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 146082	GRCh38/hg38 6q24.3-25.1(chr6:147805119-150893715)x1	GINM1, IYD +131 more	Copy number loss	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	LOC132089373, LOC132090771 +172 more	Copy number loss	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 40