ClinVar for Gene (Select 388533) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289781	NM_207392.3(KRTDAP):c.31C>T (p.Leu11Phe)	KRTDAP (L11F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289780	NM_207392.3(KRTDAP):c.243C>A (p.Asn81Lys)	KRTDAP (N67K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289779	NM_207392.3(KRTDAP):c.151A>G (p.Ile51Val)	KRTDAP (I51V)	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 3117177	NM_207392.3(KRTDAP):c.73C>G (p.Leu25Val)	KRTDAP (L25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117176	NM_207392.3(KRTDAP):c.188T>C (p.Phe63Ser)	KRTDAP (F49S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117175	NM_207392.3(KRTDAP):c.145C>G (p.Leu49Val)	KRTDAP (L49V)	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 2616527	NM_207392.3(KRTDAP):c.56C>T (p.Ser19Phe)	KRTDAP (S19F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612422	NM_207392.3(KRTDAP):c.268G>A (p.Gly90Arg)	KRTDAP (G76R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554256	NM_207392.3(KRTDAP):c.140C>G (p.Pro47Arg)	KRTDAP (P47R)	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 2257062	NM_207392.3(KRTDAP):c.11C>T (p.Pro4Leu)	KRTDAP (P4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240322	NM_207392.3(KRTDAP):c.226A>C (p.Lys76Gln)	KRTDAP (K62Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218558	NM_207392.3(KRTDAP):c.170C>T (p.Ala57Val)	KRTDAP (A57V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209571	NM_207392.3(KRTDAP):c.113C>T (p.Ala38Val)	KRTDAP (A38V)	Single nucleotide variant (missense variant)	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 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 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 151469	GRCh38/hg38 19q13.12(chr19:35474957-35521132)x3	DMKN, KRTDAP +2 more	Copy number gain	See cases	GLikely benign
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: 32