ClinVar for Gene (Select 80329) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3186306	NM_025218.4(ULBP1):c.701T>A (p.Ile234Asn)	ULBP1 (I234N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186304	NM_025218.4(ULBP1):c.682A>C (p.Ser228Arg)	ULBP1 (S228R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186303	NM_025218.4(ULBP1):c.597G>A (p.Met199Ile)	ULBP1 (M199I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186302	NM_025218.4(ULBP1):c.588A>C (p.Glu196Asp)	ULBP1 (E196D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186301	NM_025218.4(ULBP1):c.576G>A (p.Met192Ile)	ULBP1 (M192I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186300	NM_025218.4(ULBP1):c.575T>C (p.Met192Thr)	ULBP1 (M192T)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3186299	NM_025218.4(ULBP1):c.527G>T (p.Arg176Met)	ULBP1 (R176M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186298	NM_025218.4(ULBP1):c.508G>C (p.Glu170Gln)	ULBP1 (E170Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186297	NM_025218.4(ULBP1):c.441G>T (p.Lys147Asn)	ULBP1 (K147N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186296	NM_025218.4(ULBP1):c.440A>C (p.Lys147Thr)	ULBP1 (K147T)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3186295	NM_025218.4(ULBP1):c.214A>C (p.Lys72Gln)	ULBP1 (K72Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186294	NM_025218.4(ULBP1):c.20C>G (p.Pro7Arg)	ULBP1 (P7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186293	NM_025218.4(ULBP1):c.13G>T (p.Ala5Ser)	ULBP1 (A5S)	Single nucleotide variant (missense variant +1 more)	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 2558336	NM_025218.4(ULBP1):c.461A>G (p.Asn154Ser)	ULBP1 (N154S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2518079	NM_025218.4(ULBP1):c.403G>A (p.Gly135Ser)	ULBP1 (G135S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2401891	NM_025218.4(ULBP1):c.694C>A (p.Leu232Ile)	ULBP1 (L52I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369469	NM_025218.4(ULBP1):c.11C>T (p.Ala4Val)	ULBP1 (A4V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367868	NM_025218.4(ULBP1):c.314T>A (p.Leu105Gln)	ULBP1 (L105Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2345904	NM_025218.4(ULBP1):c.454G>C (p.Asp152His)	ULBP1 (D152H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2315395	NM_025218.4(ULBP1):c.536C>A (p.Thr179Asn)	ULBP1 (T179N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2300346	NM_025218.4(ULBP1):c.543C>A (p.Phe181Leu)	ULBP1 (F181L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2296558	NM_025218.4(ULBP1):c.226T>A (p.Ser76Thr)	ULBP1 (S76T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2277652	NM_025218.4(ULBP1):c.177G>C (p.Arg59Ser)	ULBP1 (R59S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2266078	NM_025218.4(ULBP1):c.370A>G (p.Arg124Gly)	ULBP1 (R124G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2241123	NM_025218.4(ULBP1):c.149G>A (p.Cys50Tyr)	ULBP1 (C50Y)	Single nucleotide variant (missense variant +2 more)	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 789004	NM_025218.4(ULBP1):c.210G>A (p.Lys70=)	ULBP1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 786540	NM_025218.4(ULBP1):c.663G>A (p.Lys221=)	ULBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 768114	NM_025218.4(ULBP1):c.77G>A (p.Gly26Glu)	ULBP1 (G26E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 746644	NM_025218.4(ULBP1):c.483T>A (p.Leu161=)	ULBP1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 728612	NM_025218.4(ULBP1):c.500A>T (p.Lys167Met)	ULBP1 (K167M)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 720271	NM_025218.4(ULBP1):c.682dup (p.Ser228fs)	ULBP1 (S228fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GBenign
Select item 716075	NM_025218.4(ULBP1):c.527G>A (p.Arg176Lys)	ULBP1 (R176K)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 716074	NM_025218.4(ULBP1):c.431A>G (p.Asn144Ser)	ULBP1 (N144S)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
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 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

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Links from Gene

Items: 49