"PreventionGenetics, part of Exact Sciences"[submitter] AND "H19"[gene - ClinVar

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

Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045472	NM_032774.1:c.*364G>A	H19, HOTS +1 more	Single nucleotide variant (synonymous variant +2 more)	H19-related condition	GLikely benign
Select item 3051583	NM_032774.1:c.*354G>A	H19, HOTS +1 more (L81F)	Single nucleotide variant (missense variant +2 more)	H19-related condition	GLikely benign
Select item 3060734	NM_032774.1:c.*304A>T	H19, HOTS +1 more	Single nucleotide variant (synonymous variant +2 more)	H19-related condition	GBenign
Select item 3052650	NM_032774.1:c.*277T>C	H19, HOTS +1 more	Single nucleotide variant (synonymous variant +2 more)	H19-related condition	GLikely benign
Select item 3058490	NM_032774.1:c.131G>T	H19, HOTS +1 more (G44V)	Single nucleotide variant (missense variant +2 more)	H19-related condition	GLikely benign
Select item 3033654	NM_032774.1:c.119C>T	MRPL23, H19 +1 more (S40L)	Single nucleotide variant (missense variant +2 more)	H19-related condition	GLikely benign
Select item 3045777	NM_032774.1:c.113C>T	H19, HOTS +1 more (T38M)	Single nucleotide variant (missense variant +2 more)	H19-related condition	GLikely benign
Select item 3050333	NM_032774.1:c.55A>G	H19, HOTS +1 more (N19D)	Single nucleotide variant (missense variant +2 more)	H19-related condition	GLikely benign
Select item 3042938	NM_032774.1:c.44C>T	H19, MRPL23 (P15L)	Single nucleotide variant (missense variant +2 more)	H19-related condition	GLikely benign
Select item 3055295	NM_001400176.1(MRPL23):c.498-15110G>A	H19, MRPL23	Single nucleotide variant (intron variant)	H19-related condition	GLikely benign
Select item 3054515	NM_001400176.1(MRPL23):c.498-15029del	H19, MRPL23	Deletion (intron variant)	H19-related condition	GLikely benign
Select item 3036456	NM_032774.1:c.-117G>A	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GLikely benign
Select item 3057744	NM_032774.1:c.-193G>A	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GLikely benign
Select item 3038492	NM_032774.1:c.-229T>C	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GBenign
Select item 3048895	NR_030533.1(MIR675):n.60G>A	H19, MIR675 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	MIR675-related disorder	GLikely benign
Select item 3038927	NM_032774.1:c.-478C>T	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GLikely benign
Select item 3049323	NM_032774.1:c.-520G>A	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GLikely benign
Select item 3045794	NM_032774.1:c.-622C>T	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GLikely benign
Select item 3045696	NM_032774.1:c.-659A>G	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GLikely benign
Select item 3037514	NM_032774.1:c.-708C>T	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GBenign
Select item 3039706	NM_001400176.1(MRPL23):c.498-14374C>T	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GBenign
Select item 3050632	NM_001400176.1(MRPL23):c.498-14062C>G	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GLikely benign
Select item 2631195	NM_001400176.1(MRPL23):c.498-10750C>T	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related condition	GUncertain significance
Select item 3032686	NM_001400176.1(MRPL23):c.498-10486A>G	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related condition	GUncertain significance
Select item 3032748	NM_001400176.1(MRPL23):c.498-10144T>G	H19, H19-ICR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GLikely benign
Select item 3038156	NM_001400176.1(MRPL23):c.498-9714C>T	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related condition	GBenign
Select item 2633517	NM_001400176.1(MRPL23):c.498-9476C>T	MRPL23, H19 +1 more	Single nucleotide variant (intron variant)	H19-related condition	GUncertain significance

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: 27