21173[HGNC] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
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 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 153365	GRCh38/hg38 6q24.2(chr6:143618974-144413183)x3	HYMAI, LOC113146422 +45 more	Copy number gain	See cases	GPathogenic
Select item 2494066	NM_032860.5(LTV1):c.86T>C (p.Leu29Ser)	LTV1 (L29S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2527610	NM_032860.5(LTV1):c.113G>T (p.Arg38Met)	LTV1 (R38M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3292299	NM_032860.5(LTV1):c.157G>A (p.Ala53Thr)	LTV1 (A53T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2214089	NM_032860.5(LTV1):c.202T>A (p.Tyr68Asn)	LTV1 (Y68N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2233224	NM_032860.5(LTV1):c.218A>G (p.Lys73Arg)	LTV1 (K73R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2559805	NM_032860.5(LTV1):c.457G>A (p.Asp153Asn)	LTV1 (D153N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3121531	NM_032860.5(LTV1):c.475C>T (p.Leu159Phe)	LTV1 (L159F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2443758	NM_032860.5(LTV1):c.503A>G (p.Asn168Ser)	LTV1	Single nucleotide variant (5 prime UTR variant +1 more)	Inflammatory poikiloderma with hair abnormalities and acral keratoses	GPathogenic
Select item 2482796	NM_032860.5(LTV1):c.587A>T (p.Glu196Val)	LTV1 (E196V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121532	NM_032860.5(LTV1):c.590A>G (p.Lys197Arg)	LTV1 (K18R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599889	NM_032860.5(LTV1):c.590A>C (p.Lys197Thr)	LTV1 (K18T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323853	NM_032860.5(LTV1):c.620C>A (p.Ala207Glu)	LTV1 (A207E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292300	NM_032860.5(LTV1):c.716G>A (p.Arg239His)	LTV1 (R60H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320089	NM_032860.5(LTV1):c.724G>A (p.Glu242Lys)	LTV1 (E63K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216117	NM_032860.5(LTV1):c.779A>T (p.Asp260Val)	LTV1 (D81V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771406	NM_032860.5(LTV1):c.882A>G (p.Leu294=)	LTV1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2512862	NM_032860.5(LTV1):c.908A>T (p.Lys303Ile)	LTV1 (K124I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792059	NM_032860.5(LTV1):c.952T>C (p.Leu318=)	LTV1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2299612	NM_032860.5(LTV1):c.1031C>T (p.Ala344Val)	LTV1 (A165V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540918	NM_032860.5(LTV1):c.1033A>G (p.Lys345Glu)	LTV1 (K166E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714344	NM_032860.5(LTV1):c.1034A>G (p.Lys345Arg)	LTV1 (K345R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2485696	NM_032860.5(LTV1):c.1130G>A (p.Arg377Gln)	LTV1 (R377Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376195	NM_032860.5(LTV1):c.1196C>T (p.Thr399Ile)	LTV1 (T220I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3121530	NM_032860.5(LTV1):c.1205T>C (p.Ile402Thr)	LTV1 (I402T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356154	NM_032860.5(LTV1):c.1256C>G (p.Ser419Cys)	LTV1 (S419C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218163	NM_032860.5(LTV1):c.1313G>A (p.Arg438His)	LTV1 (R259H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371224	NM_032860.5(LTV1):c.1400A>G (p.Lys467Arg)	LTV1 (K288R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
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 2424710	NC_000006.11:g.(?_142623467)_(144508628_?)del	ADAT2, ADGRG6 +11 more	Deletion	not provided	GPathogenic
Select item 1527300	GRCh37/hg19 6q24.2(chr6:143874282-145071930)	HYMAI, LTV1 +6 more	Copy number gain	not specified	GPathogenic
Select item 1527299	GRCh37/hg19 6q24.2-24.3(chr6:143331663-145817051)	ADAT2, AIG1 +10 more	Copy number gain	not specified	GPathogenic
Select item 1071172	NC_000006.11:g.(?_143772160)_(144508648_?)del	FUCA2, HYMAI +7 more	Deletion	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 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

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Items: 42