ClinVar for Gene (Select 53827) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280250	NM_014164.6(FXYD5):c.319C>T (p.Leu107Phe)	FXYD5 (L107F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280249	NM_014164.6(FXYD5):c.32C>G (p.Thr11Ser)	FXYD5, LOC130064208 (T11S)	Single nucleotide variant (missense 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 3097576	NM_014164.6(FXYD5):c.68C>T (p.Thr23Met)	FXYD5 (T23M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097574	NM_014164.6(FXYD5):c.338C>T (p.Pro113Leu)	FXYD5 (P113L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097573	NM_014164.6(FXYD5):c.16C>T (p.Arg6Cys)	FXYD5, LOC130064208 (R6C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097572	NM_014164.6(FXYD5):c.16C>A (p.Arg6Ser)	FXYD5, LOC130064208 (R6S)	Single nucleotide variant (missense 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 2554063	NM_014164.6(FXYD5):c.25C>G (p.Leu9Val)	FXYD5, LOC130064208 (L9V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552088	NM_014164.6(FXYD5):c.310A>C (p.Thr104Pro)	FXYD5 (T73P +1 more)	Single nucleotide variant (missense variant +1 more)	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 2398167	NM_014164.6(FXYD5):c.427C>T (p.Arg143Trp)	FXYD5 (R112W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352209	NM_014164.6(FXYD5):c.361C>T (p.Pro121Ser)	FXYD5 (P90S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341034	NM_014164.6(FXYD5):c.134G>A (p.Arg45Gln)	FXYD5 (R45Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2302307	NM_014164.6(FXYD5):c.5C>T (p.Ser2Leu)	FXYD5, LOC130064208 (S2L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227802	NM_014164.6(FXYD5):c.17G>A (p.Arg6His)	FXYD5, LOC130064208 (R6H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219046	NM_014164.6(FXYD5):c.418C>T (p.His140Tyr)	FXYD5 (H140Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210377	NM_014164.6(FXYD5):c.512G>A (p.Arg171Gln)	FXYD5 (R140Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	ALKBH6, APLP1 +54 more	Deletion	Brugada syndrome 5	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 687741	GRCh37/hg19 19q13.12(chr19:35548527-35772471)x3	FAM187B, FXYD1 +7 more	Copy number gain	not provided	GUncertain significance
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 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic
Select item 221398	GRCh37/hg19 19q13.12(chr19:35516999-35990896)x3	CD22, DMKN +18 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 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 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
Select item 91979	NM_014164.6(FXYD5):c.280A>G (p.Ser94Gly)	FXYD5 (S94G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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Links from Gene

Items: 36