HCAR1[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 152933	GRCh38/hg38 12q24.31(chr12:122646987-123057419)x3	ABCB9, ARL6IP4 +38 more	Copy number gain	See cases	GUncertain significance
Select item 3104428	NM_032554.4(HCAR1):c.1003G>A (p.Asp335Asn)	HCAR1 (D335N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289762	NM_032554.4(HCAR1):c.958C>A (p.Arg320Ser)	HCAR1 (R320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358117	NM_032554.4(HCAR1):c.952C>T (p.Leu318Phe)	HCAR1 (L318F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104434	NM_032554.4(HCAR1):c.929C>T (p.Pro310Leu)	HCAR1 (P310L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293234	NM_032554.4(HCAR1):c.913T>C (p.Ser305Pro)	HCAR1 (S305P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207540	NM_032554.4(HCAR1):c.872A>G (p.Lys291Arg)	HCAR1 (K291R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613367	NM_032554.4(HCAR1):c.860A>G (p.Lys287Arg)	HCAR1 (K287R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104433	NM_032554.4(HCAR1):c.764C>T (p.Ser255Phe)	HCAR1 (S255F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369858	NM_032554.4(HCAR1):c.746C>T (p.Ser249Leu)	HCAR1 (S249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357360	NM_032554.4(HCAR1):c.709G>A (p.Val237Met)	HCAR1 (V237M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104432	NM_032554.4(HCAR1):c.658C>T (p.Arg220Trp)	HCAR1 (R220W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104431	NM_032554.4(HCAR1):c.658C>G (p.Arg220Gly)	HCAR1 (R220G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558119	NM_032554.4(HCAR1):c.640C>T (p.Arg214Trp)	HCAR1 (R214W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406811	NM_032554.4(HCAR1):c.613C>T (p.Arg205Trp)	HCAR1 (R205W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457517	NM_032554.4(HCAR1):c.578T>C (p.Leu193Ser)	HCAR1 (L193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296865	NM_032554.4(HCAR1):c.551A>C (p.Glu184Ala)	HCAR1 (E184A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104430	NM_032554.4(HCAR1):c.548T>C (p.Leu183Pro)	HCAR1 (L183P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643505	NM_032554.4(HCAR1):c.515C>T (p.Ser172Leu)	HCAR1 (S172L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2308796	NM_032554.4(HCAR1):c.482C>T (p.Thr161Met)	HCAR1 (T161M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400962	NM_032554.4(HCAR1):c.418T>A (p.Trp140Arg)	HCAR1 (W140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350988	NM_032554.4(HCAR1):c.406G>T (p.Val136Phe)	HCAR1 (V136F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283586	NM_032554.4(HCAR1):c.389G>C (p.Arg130Pro)	HCAR1 (R130P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308612	NM_032554.4(HCAR1):c.350T>C (p.Val117Ala)	HCAR1 (V117A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456707	NM_032554.4(HCAR1):c.320C>T (p.Thr107Met)	HCAR1 (T107M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400985	NM_032554.4(HCAR1):c.319A>T (p.Thr107Ser)	HCAR1 (T107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104429	NM_032554.4(HCAR1):c.221A>G (p.Tyr74Cys)	HCAR1 (Y74C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477293	NM_032554.4(HCAR1):c.194T>G (p.Met65Arg)	HCAR1 (M65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283587	NM_032554.4(HCAR1):c.158A>T (p.Tyr53Phe)	HCAR1 (Y53F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478863	NM_032554.4(HCAR1):c.150C>A (p.Ser50Arg)	HCAR1 (S50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600598	NM_032554.4(HCAR1):c.130A>G (p.Met44Val)	HCAR1 (M44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266800	NM_032554.4(HCAR1):c.100G>A (p.Gly34Arg)	HCAR1 (G34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104435	NM_032554.4(HCAR1):c.99T>G (p.Asn33Lys)	HCAR1 (N33K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618262	NM_032554.4(HCAR1):c.88G>C (p.Ala30Pro)	HCAR1 (A30P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460872	NM_032554.4(HCAR1):c.47A>T (p.Gln16Leu)	HCAR1 (Q16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2426783	NC_000012.11:g.(?_122277634)_(124242579_?)del	ABCB9, ARL6IP4 +37 more	Deletion	not provided	GUncertain significance
Select item 1807868	GRCh37/hg19 12q24.31(chr12:122737779-123265478)x3	CCDC62, CLIP1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1527745	GRCh37/hg19 12q24.31(chr12:122938957-123747037)	ABCB9, ARL6IP4 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 1328462	GRCh37/hg19 12q24.31(chr12:121887337-123386068)x3	B3GNT4, BCL7A +25 more	Copy number gain	not provided	GUncertain significance
Select item 687704	GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1	AACS, ABCB9 +52 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 55