LDAH[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 150627	GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1	APOB, APOB-ICR +131 more	Copy number loss	See cases	GPathogenic
Select item 3118205	NM_021925.4(LDAH):c.911C>A (p.Thr304Asn)	LDAH (T256N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118204	NM_021925.4(LDAH):c.836A>G (p.Tyr279Cys)	LDAH (Y149C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467600	NM_021925.4(LDAH):c.768A>G (p.Ile256Met)	LDAH (I208M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118203	NM_021925.4(LDAH):c.684A>G (p.Ile228Met)	LDAH (I228M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294672	NM_021925.4(LDAH):c.680A>G (p.Asn227Ser)	LDAH (N179S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290343	NM_021925.4(LDAH):c.658G>A (p.Glu220Lys)	LDAH (E178K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523264	NM_021925.4(LDAH):c.547T>G (p.Leu183Val)	LDAH (L135V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331991	NM_021925.4(LDAH):c.524A>G (p.Asn175Ser)	LDAH (N127S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292550	NM_021925.4(LDAH):c.506G>A (p.Arg169Gln)	LDAH (R39Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118201	NM_021925.4(LDAH):c.475C>G (p.Arg159Gly)	LDAH (R111G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118200	NM_021925.4(LDAH):c.467C>T (p.Pro156Leu)	LDAH (P114L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 789267	NM_021925.4(LDAH):c.452G>A (p.Arg151Gln)	LDAH (R103Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3290342	NM_021925.4(LDAH):c.418A>G (p.Ile140Val)	LDAH (I140V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3118199	NM_021925.4(LDAH):c.407T>A (p.Ile136Asn)	LDAH (I6N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290345	NM_021925.4(LDAH):c.391A>G (p.Met131Val)	LDAH (M89V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2650708	NM_021925.4(LDAH):c.349G>A (p.Glu117Lys)	LDAH (E117K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3118198	NM_021925.4(LDAH):c.256G>A (p.Ala86Thr)	LDAH (A86T)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3118197	NM_021925.4(LDAH):c.220C>T (p.Arg74Cys)	LDAH (R74C)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3290344	NM_021925.4(LDAH):c.217A>G (p.Arg73Gly)	LDAH (R73G)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2518324	NM_021925.4(LDAH):c.214A>G (p.Asn72Asp)	LDAH (N72D)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2232858	NM_021925.4(LDAH):c.178T>C (p.Tyr60His)	LDAH (Y60H)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2303845	NM_021925.4(LDAH):c.94A>G (p.Thr32Ala)	LDAH (T32A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
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 687179	GRCh37/hg19 2p24.3-24.1(chr2:15631145-21729493)x1	APOB, CYRIA +25 more	Copy number loss	not provided	GPathogenic
Select item 562668	GRCh37/hg19 2p24.1-23.3(chr2:19905995-24762790)x1	APOB, ATAD2B +22 more	Copy number loss	not provided	GPathogenic
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

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Items: 40