ALKAL1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 153587	GRCh38/hg38 8q11.21-11.23(chr8:47338394-52753188)x3	ALKAL1, CEBPD +90 more	Copy number gain	See cases	GUncertain significance
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +175 more	Copy number loss	See cases	GPathogenic
Select item 148374	GRCh38/hg38 8q11.23(chr8:52294744-53104010)x3	ALKAL1, LOC108281129 +17 more	Copy number gain	See cases	GLikely benign
Select item 150753	GRCh38/hg38 8q11.23(chr8:52387273-52944183)x3	ALKAL1, LOC108281129 +13 more	Copy number gain	See cases	GLikely benign
Select item 150998	GRCh38/hg38 8q11.23(chr8:52387348-52986011)x3	ALKAL1, LOC108281129 +13 more	Copy number gain	See cases	GUncertain significance
Select item 545362	Single allele	ALKAL1, LOC108281129 +3 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545363	Single allele	ALKAL1, LOC108281129 +3 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545364	Single allele	ALKAL1, LOC126860387 +10 more	Duplication	Autism	GLikely pathogenic
Select item 152322	GRCh38/hg38 8q11.23(chr8:52513633-52875424)x3	ALKAL1, LOC126860387 +10 more	Copy number gain	See cases	GUncertain significance
Select item 149393	GRCh38/hg38 8q11.23(chr8:52513649-52822370)x3	ALKAL1, LOC126860387 +9 more	Copy number gain	See cases	GLikely benign
Select item 3111527	NM_207413.4(ALKAL1):c.287G>T (p.Arg96Leu)	ALKAL1 (R96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286716	NM_207413.4(ALKAL1):c.279T>G (p.His93Gln)	ALKAL1 (H93Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482865	NM_207413.4(ALKAL1):c.263C>A (p.Pro88Gln)	ALKAL1 (P88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 545365	Single allele	ALKAL1, LOC126860387 +4 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545366	Single allele	ALKAL1, LOC126860387 +10 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 151997	GRCh38/hg38 8q11.23(chr8:52554777-52875424)x3	ALKAL1, LOC126860388 +9 more	Copy number gain	See cases	GUncertain significance
Select item 545367	Single allele	ALKAL1, LOC126860388 +9 more	Duplication	Autism	GLikely pathogenic
Select item 3111521	NM_207413.4(ALKAL1):c.179C>T (p.Ser60Phe)	ALKAL1 (S60F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111515	NM_207413.4(ALKAL1):c.170C>G (p.Pro57Arg)	ALKAL1 (P57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286707	NM_207413.4(ALKAL1):c.160G>A (p.Gly54Ser)	ALKAL1 (G54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111511	NM_207413.4(ALKAL1):c.152C>T (p.Ala51Val)	ALKAL1 (A51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111507	NM_207413.4(ALKAL1):c.136C>G (p.Leu46Val)	ALKAL1 (L46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286698	NM_207413.4(ALKAL1):c.97A>T (p.Arg33Trp)	ALKAL1 (R33W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111538	NM_207413.4(ALKAL1):c.50C>T (p.Ala17Val)	ALKAL1 (A17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111534	NM_207413.4(ALKAL1):c.37C>G (p.Leu13Val)	ALKAL1 (L13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111531	NM_207413.4(ALKAL1):c.31C>T (p.Pro11Ser)	ALKAL1 (P11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024644	GRCh37/hg19 8q11.23(chr8:53384715-53917710)x3	ALKAL1, NPBWR1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527431	GRCh37/hg19 8q11.23(chr8:53348708-53892198)	ALKAL1, NPBWR1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 979232	GRCh37/hg19 8q11.23(chr8:52605905-54913501)x3	ALKAL1, ATP6V1H +8 more	Copy number gain	not provided	GUncertain significance
Select item 815128	GRCh37/hg19 8q11.23(chr8:53383339-53856239)x3	RB1CC1, NPBWR1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 689277	GRCh37/hg19 8q11.23(chr8:53442701-53745486)x3	ALKAL1, RB1CC1	Copy number gain	not provided	GUncertain significance
Select item 689170	GRCh37/hg19 8q11.23(chr8:53449547-53783310)x3	ALKAL1, RB1CC1	Copy number gain	not provided	GUncertain significance
Select item 689072	GRCh37/hg19 8q11.23(chr8:53421072-53783310)x3	ALKAL1, RB1CC1	Copy number gain	not provided	GUncertain significance
Select item 688961	GRCh37/hg19 8q11.23(chr8:53261856-53549167)x3	ALKAL1, RB1CC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 688699	GRCh37/hg19 8q11.23(chr8:53311515-53535713)x3	ALKAL1, RB1CC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687893	GRCh37/hg19 8q11.23(chr8:53377235-53838949)x3	ALKAL1, RB1CC1	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 687124	GRCh37/hg19 8q11.23(chr8:53431101-53789854)x3	ALKAL1, RB1CC1	Copy number gain	not provided	GUncertain significance
Select item 686950	GRCh37/hg19 8q11.23(chr8:53414138-53774740)x3	ALKAL1, RB1CC1	Copy number gain	not provided	GUncertain significance
Select item 686946	GRCh37/hg19 8q11.23(chr8:53334348-53731326)x3	ALKAL1, RB1CC1	Copy number gain	not provided	GUncertain significance
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	IDO1, IDO2 +78 more	Copy number gain	not provided	GPathogenic
Select item 563544	GRCh37/hg19 8q11.1-11.23(chr8:46863521-55218838)x3	SNTG1, SPIDR +20 more	Copy number gain	not provided	GUncertain significance
Select item 544682	GRCh37/hg19 8q11.23(chr8:53468370-53720613)	ALKAL1, RB1CC1	Copy number gain	Schizophrenia	Gnot provided
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394685	GRCh37/hg19 8q11.23(chr8:53477987-53658080)x3	ALKAL1, RB1CC1	Copy number gain	See cases	GLikely benign
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ADAM18, ADAM2 +133 more	Copy number gain	See cases	GUncertain significance
Select item 252969	GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3	ALKAL1, ASPH +36 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 63