LOC130065089[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	NAT14, NLRP11 +124 more	Copy number gain	See cases	GUncertain significance
Select item 648531	NC_000019.9:g.(?_55644273)_(55768277_?)dup	DNAAF3, DNAAF3-AS1 +18 more	Duplication	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 651255	NC_000019.10:g.(?_55140863)_(55151937_?)del	LOC130065089, TNNI3 +1 more	Deletion	Nemaline myopathy 5	GPathogenic
Select item 583940	NC_000019.10:g.(?_55140863)_(55147177_?)del	LOC130065089, TNNT1	Deletion	Nemaline myopathy 5	GPathogenic
Select item 534404	NC_000019.10:g.(?_55140863)_(55141322_?)del	LOC130065089, TNNT1	Deletion	Nemaline myopathy 5	GPathogenic
Select item 660688	NC_000019.10:g.(?_55140873)_(55147167_?)del	LOC130065089, TNNT1	Deletion	Nemaline myopathy 5	GPathogenic
Select item 1124370	NM_003283.6(TNNT1):c.219A>G (p.Lys73=)	LOC130065089, TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 3180535	NM_003283.6(TNNT1):c.211A>T (p.Met71Leu)	LOC130065089, TNNT1 (M71L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1010087	NM_003283.6(TNNT1):c.207G>T (p.Lys69Asn)	LOC130065089, TNNT1 (K58N +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 957494	NM_003283.6(TNNT1):c.202C>T (p.Arg68Cys)	LOC130065089, TNNT1 (R57C +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5 +1 more	GUncertain significance
Select item 639062	NM_003283.6(TNNT1):c.200A>C (p.His67Pro)	LOC130065089, TNNT1 (H67P +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 465993	NM_003283.6(TNNT1):c.200A>G (p.His67Arg)	TNNT1, LOC130065089 (H67R +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 1302658	NM_003283.6(TNNT1):c.199C>T (p.His67Tyr)	LOC130065089, TNNT1 (H56Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503501	NM_003283.6(TNNT1):c.194A>C (p.Asp65Ala)	LOC130065089, TNNT1 (D65A +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5C, autosomal dominant	GPathogenic
Select item 1943912	NM_003283.6(TNNT1):c.193-3C>T	LOC130065089, TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GUncertain significance
Select item 1539863	NM_003283.6(TNNT1):c.193-6C>T	LOC130065089, TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2197549	NM_003283.6(TNNT1):c.193-14C>T	LOC130065089, TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 1210606	NM_003283.6(TNNT1):c.193-24A>C	LOC130065089, TNNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 29