ClinVar for Gene (Select 11045) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
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 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 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 3186796	NM_007000.4(UPK1A):c.544G>A (p.Val182Met)	UPK1A (V182M)	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 3186794	NM_007000.4(UPK1A):c.411C>G (p.Ser137Arg)	UPK1A (S137R)	Single nucleotide variant (missense variant)	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 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 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 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 2603221	NM_007000.4(UPK1A):c.515C>T (p.Thr172Met)	UPK1A (T172M)	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 2560096	NM_007000.4(UPK1A):c.533C>A (p.Ala178Asp)	UPK1A (A178D)	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 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 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 2467847	NM_007000.4(UPK1A):c.34G>A (p.Gly12Arg)	UPK1A (G12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	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 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 2365098	NM_007000.4(UPK1A):c.581C>T (p.Thr194Met)	UPK1A (T194M)	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 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 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 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 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 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 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
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	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 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 46