UPK1A[gene] - ClinVar

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

Search results

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 2467847	NM_007000.4(UPK1A):c.34G>A (p.Gly12Arg)	UPK1A (G12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368635	NM_007000.4(UPK1A):c.98C>G (p.Ser33Cys)	UPK1A, UPK1A-AS1 (S33C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3186791	NM_007000.4(UPK1A):c.117A>G (p.Ile39Met)	UPK1A, UPK1A-AS1 (I39M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3186792	NM_007000.4(UPK1A):c.190G>T (p.Ala64Ser)	UPK1A, UPK1A-AS1 (A64S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2300004	NM_007000.4(UPK1A):c.196A>G (p.Ile66Val)	UPK1A, UPK1A-AS1 (I66V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3331150	NM_007000.4(UPK1A):c.211G>A (p.Gly71Ser)	UPK1A, UPK1A-AS1 (G71S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2270688	NM_007000.4(UPK1A):c.221T>C (p.Phe74Ser)	UPK1A, UPK1A-AS1 (F74S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2213130	NM_007000.4(UPK1A):c.263G>A (p.Arg88His)	UPK1A, UPK1A-AS1 (R88H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3186793	NM_007000.4(UPK1A):c.271T>C (p.Ser91Pro)	UPK1A, UPK1A-AS1 (S91P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2531878	NM_007000.4(UPK1A):c.284C>T (p.Thr95Met)	UPK1A, UPK1A-AS1 (T95M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3186794	NM_007000.4(UPK1A):c.411C>G (p.Ser137Arg)	UPK1A (S137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356005	NM_007000.4(UPK1A):c.461T>C (p.Met154Thr)	UPK1A (M154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603221	NM_007000.4(UPK1A):c.515C>T (p.Thr172Met)	UPK1A (T172M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186795	NM_007000.4(UPK1A):c.527G>A (p.Arg176Gln)	UPK1A (R176Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560096	NM_007000.4(UPK1A):c.533C>A (p.Ala178Asp)	UPK1A (A178D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186796	NM_007000.4(UPK1A):c.544G>A (p.Val182Met)	UPK1A (V182M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365098	NM_007000.4(UPK1A):c.581C>T (p.Thr194Met)	UPK1A (T194M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251722	NM_007000.4(UPK1A):c.601A>C (p.Asn201His)	UPK1A (N201H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251228	NM_007000.4(UPK1A):c.632A>T (p.Asp211Val)	UPK1A (D211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550313	NM_007000.4(UPK1A):c.658G>C (p.Glu220Gln)	UPK1A (E220Q)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3186797	NM_007000.4(UPK1A):c.664A>G (p.Ile222Val)	UPK1A (I222V)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2515497	NM_007000.4(UPK1A):c.667G>A (p.Gly223Ser)	UPK1A (G223S)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2373737	NM_007000.4(UPK1A):c.673G>A (p.Ala225Thr)	UPK1A (A225T)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2326713	NM_007000.4(UPK1A):c.679G>C (p.Asp227His)	UPK1A (D227H)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3186799	NM_007000.4(UPK1A):c.689C>T (p.Thr230Met)	UPK1A (R263C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593990	NM_007000.4(UPK1A):c.697A>G (p.Ile233Val)	UPK1A (I233V)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3186800	NM_007000.4(UPK1A):c.772C>G (p.Leu258Val)	UPK1A (L258V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	ALKBH6, APLP1 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1340392	GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3	ALKBH6, APLP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 812929	Single allele	MAG, FXYD5 +33 more	Deletion	Dystonic disorder	GPathogenic
Select item 685279	GRCh37/hg19 19q13.12(chr19:35613953-36183886)x1	ATP4A, CD22 +24 more	Copy number loss	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442794	GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1	ALKBH6, APLP1 +39 more	Copy number loss	See cases	GUncertain significance
Select item 395360	GRCh37/hg19 19q13.12(chr19:36166726-36207146)x3	UPK1A, ZBTB32	Copy number gain	See cases	GUncertain significance

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: 46