HAT1[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 58765	GRCh38/hg38 2q31.1(chr2:170444219-172050237)x1	LOC129935084, LOC129935085 +54 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 2227991	NM_003642.4(HAT1):c.383C>T (p.Ser128Phe)	HAT1 (S128F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300899	NM_003642.4(HAT1):c.450T>G (p.Ser150Arg)	HAT1 (S150R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473797	NM_003642.4(HAT1):c.483A>G (p.Ile161Met)	HAT1 (I161M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267651	NM_003642.4(HAT1):c.524A>G (p.His175Arg)	HAT1 (H175R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362853	NM_003642.4(HAT1):c.841A>T (p.Ser281Cys)	HAT1 (S281C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104312	NM_003642.4(HAT1):c.1052A>G (p.Tyr351Cys)	HAT1 (Y351C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391910	NM_003642.4(HAT1):c.1063A>G (p.Ile355Val)	HAT1 (I355V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318207	NM_003642.4(HAT1):c.1202G>C (p.Ser401Thr)	HAT1 (S401T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104313	NM_003642.4(HAT1):c.1231C>T (p.Arg411Cys)	HAT1 (R411C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 2424739	NC_000002.11:g.(?_171675102)_(174232392_?)dup	CDCA7, CYBRD1 +15 more	Duplication	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1695396	Single allele	AGPS, ATF2 +47 more	Deletion	Split hand-foot malformation 5	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	METTL8, PSMD14 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	PJVK, RBM45 +60 more	Copy number loss	3-4 finger osseus syndactyly +1 more	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814343	GRCh37/hg19 2q31.1(chr2:172808946-173003710)x3	DLX1, HAT1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 685748	GRCh37/hg19 2q31.1(chr2:172610949-172900426)x3	HAT1, METAP1D +1 more	Copy number gain	not provided	GUncertain significance
Select item 562670	GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3	ATF2, ATP5MC3 +27 more	Copy number gain	not provided	GPathogenic
Select item 559503	GRCh37/hg19 2q31.1(chr2:172344870-173038935)x4	SLC25A12, DLX1 +5 more	Copy number gain	Isolated Pierre-Robin syndrome +3 more	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 221426	GRCh37/hg19 2q31.1(chr2:172379152-172803266)x3	CYBRD1, DYNC1I2 +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 35