LIN37[gene] - ClinVar

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Items: 45

	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 3118924	NM_019104.3(LIN37):c.29A>T (p.Lys10Ile)	LIN37 (K10I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341730	NM_019104.3(LIN37):c.81G>C (p.Gln27His)	LIN37 (Q27H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485536	NM_019104.3(LIN37):c.101A>C (p.His34Pro)	LIN37 (H20P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290765	NM_019104.3(LIN37):c.157A>G (p.Asn53Asp)	LIN37 (N53D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351917	NM_019104.3(LIN37):c.175G>A (p.Ala59Thr)	LIN37 (A45T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410221	NM_019104.3(LIN37):c.203G>A (p.Arg68His)	LIN37 (R54H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118923	NM_019104.3(LIN37):c.266C>T (p.Pro89Leu)	LIN37 (P89L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539333	NM_019104.3(LIN37):c.310G>A (p.Val104Met)	LIN37 (V90M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649753	NM_019104.3(LIN37):c.339G>A (p.Thr113=)	LIN37	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2463250	NM_019104.3(LIN37):c.340C>T (p.Pro114Ser)	LIN37 (P100S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118925	NM_019104.3(LIN37):c.369G>A (p.Met123Ile)	LIN37 (M123I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280314	NM_019104.3(LIN37):c.394C>A (p.Arg132Ser)	LIN37 (R118S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277377	NM_019104.3(LIN37):c.394C>T (p.Arg132Cys)	LIN37 (R118C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279987	NM_019104.3(LIN37):c.395G>C (p.Arg132Pro)	LIN37 (R118P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560815	NM_019104.3(LIN37):c.472C>T (p.Arg158Cys)	LIN37 (R144C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375641	NM_019104.3(LIN37):c.478G>A (p.Val160Met)	LIN37 (V146M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312062	NM_019104.3(LIN37):c.508G>A (p.Gly170Arg)	LIN37 (G170R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316636	NM_019104.3(LIN37):c.574C>G (p.Pro192Ala)	LIN37 (P178A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411171	NM_019104.3(LIN37):c.604T>G (p.Ser202Ala)	LIN37 (S202A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118926	NM_019104.3(LIN37):c.652C>T (p.Arg218Cys)	LIN37 (R218C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209160	NM_019104.3(LIN37):c.653G>A (p.Arg218His)	LIN37 (R204H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287840	NM_019104.3(LIN37):c.680G>A (p.Arg227Gln)	LIN37 (R227Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223880	NM_019104.3(LIN37):c.698C>T (p.Ser233Leu)	LIN37 (S219L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210942	NM_019104.3(LIN37):c.704G>C (p.Ser235Thr)	LIN37 (S221T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477691	NM_019104.3(LIN37):c.731A>C (p.Glu244Ala)	LIN37 (E230A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538573	NM_019104.3(LIN37):c.734G>A (p.Arg245Gln)	LIN37 (R231Q +1 more)	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 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 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 221541	GRCh37/hg19 19q13.12(chr19:36227660-36250792)x3	HSPB6, IGFLR1 +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221399	GRCh37/hg19 19q13.12(chr19:36227660-36268769)x3	ARHGAP33, HSPB6 +6 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 45