"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1300 - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1730941	NM_001130144.3(LTBP3):c.3395C>T (p.Pro1132Leu)	LOC130006027, LTBP3 (P968L +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GUncertain significance
Select item 1377363	NM_001130144.3(LTBP3):c.3392C>T (p.Ala1131Val)	LOC130006027, LTBP3 (A967V +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GUncertain significance
Select item 2899473	NM_001130144.3(LTBP3):c.3386-4G>T	LOC130006027, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 1550542	NM_001130144.3(LTBP3):c.3386-4G>A	LOC130006027, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2916119	NM_001130144.3(LTBP3):c.3386-5C>T	LOC130006027, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 1567906	NM_001130144.3(LTBP3):c.3386-6C>T	LOC130006027, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2987207	NM_001130144.3(LTBP3):c.3386-12T>C	LOC130006027, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2993957	NM_001130144.3(LTBP3):c.3386-15A>G	LOC130006027, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2066802	NM_001130144.3(LTBP3):c.3386-16C>T	LOC130006027, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 1590919	NM_001130144.3(LTBP3):c.3386-18G>A	LOC130006027, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 1948849	NM_001130144.3(LTBP3):c.3385+20T>A	LOC130006027, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 1615735	NM_001130144.3(LTBP3):c.3385+11G>A	LOC130006027, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2092863	NM_001130144.3(LTBP3):c.3385+9G>A	LOC130006027, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2749602	NM_001130144.3(LTBP3):c.3385+6G>C	LOC130006027, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2886319	NM_001130144.3(LTBP3):c.3385G>A (p.Glu1129Lys)	LOC130006027, LTBP3 (E1129K)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2822515	NM_001130144.3(LTBP3):c.3383C>T (p.Ala1128Val)	LOC130006027, LTBP3 (A1128V)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 1730824	NM_001130144.3(LTBP3):c.3381G>A (p.Pro1127=)	LOC130006027, LTBP3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1579592	NM_001130144.3(LTBP3):c.3378C>T (p.Ser1126=)	LOC130006027, LTBP3	Single nucleotide variant (synonymous variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 3018063	NM_001130144.3(LTBP3):c.3376_3377del (p.Ser1126fs)	LOC130006027, LTBP3 (S1126fs)	Microsatellite (frameshift variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GPathogenic
Select item 3007220	NM_001130144.3(LTBP3):c.3373G>A (p.Glu1125Lys)	LOC130006027, LTBP3 (E1125K)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 1613974	NM_001130144.3(LTBP3):c.3372C>A (p.Pro1124=)	LOC130006027, LTBP3	Single nucleotide variant (synonymous variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GLikely benign
Select item 532700	NM_001130144.3(LTBP3):c.3372C>T (p.Pro1124=)	LOC130006027, LTBP3	Single nucleotide variant (synonymous variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GLikely benign
Select item 2853838	NM_001130144.3(LTBP3):c.3367C>T (p.Leu1123Phe)	LOC130006027, LTBP3 (L1123F)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2727680	NM_001130144.3(LTBP3):c.3359A>T (p.Asp1120Val)	LTBP3, LOC130006027 (D1120V)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2145195	NM_001130144.3(LTBP3):c.3355C>G (p.Arg1119Gly)	LOC130006027, LTBP3 (R1119G)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 1495822	NM_001130144.3(LTBP3):c.3343_3348dup (p.Gly1115_Pro1116dup)	LTBP3, LOC130006027	Duplication (inframe_insertion +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 1730477	NM_001130144.3(LTBP3):c.3348C>T (p.Pro1116=)	LTBP3, LOC130006027	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 3002695	NM_001130144.3(LTBP3):c.3344G>A (p.Gly1115Glu)	LOC130006027, LTBP3 (G1115E)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 1351824	NM_001130144.3(LTBP3):c.3342dup (p.Gly1115fs)	LOC130006027, LTBP3 (G1115fs)	Duplication (frameshift variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GPathogenic
Select item 747764	NM_001130144.3(LTBP3):c.3342C>T (p.Pro1114=)	LOC130006027, LTBP3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1714258	NM_001130144.3(LTBP3):c.3337G>A (p.Val1113Met)	LOC130006027, LTBP3 (V1113M)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 1946183	NM_001130144.3(LTBP3):c.3332C>T (p.Pro1111Leu)	LOC130006027, LTBP3 (P1111L)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2792919	NM_001130144.3(LTBP3):c.3330G>A (p.Pro1110=)	LOC130006027, LTBP3	Single nucleotide variant (synonymous variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 33