"PreventionGenetics, part of Exact Sciences"[submitter] AND "ITIH4"[ge - ClinVar - NCBI

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

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060455	NM_002218.5(ITIH4):c.2723+7T>C	ITIH4	Single nucleotide variant (intron variant)	ITIH4-related disorder	GBenign
Select item 3059492	NM_002218.5(ITIH4):c.2372T>C (p.Leu791Pro)	ITIH4 (L761P +1 more)	Single nucleotide variant (missense variant)	ITIH4-related disorder	GBenign
Select item 3059539	NM_002218.5(ITIH4):c.2296+8A>G	ITIH4	Single nucleotide variant (intron variant)	ITIH4-related disorder	GBenign
Select item 3059195	NM_002218.5(ITIH4):c.2226T>C (p.Ser742=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder	GBenign
Select item 748950	NM_002218.5(ITIH4):c.2184C>T (p.Pro728=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder +1 more	GBenign/Likely benign
Select item 3059503	NM_002218.5(ITIH4):c.2142G>C (p.Met714Ile)	ITIH4 (M684I +1 more)	Single nucleotide variant (missense variant)	ITIH4-related disorder	GBenign
Select item 3059528	NM_002218.5(ITIH4):c.2092C>A (p.Pro698Thr)	ITIH4 (P668T +1 more)	Single nucleotide variant (missense variant)	ITIH4-related disorder	GBenign
Select item 3059222	NM_002218.5(ITIH4):c.2006A>T (p.Gln669Leu)	ITIH4 (Q639L +1 more)	Single nucleotide variant (missense variant)	ITIH4-related disorder	GBenign
Select item 3045300	NM_002218.5(ITIH4):c.1512G>A (p.Val504=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder	GLikely benign
Select item 712701	NM_002218.5(ITIH4):c.1204G>A (p.Val402Met)	ITIH4, ITIH4-AS1 (V402M)	Single nucleotide variant (non-coding transcript variant +1 more)	ITIH4-related disorder +1 more	GLikely benign
Select item 3036958	NM_002218.5(ITIH4):c.1152C>T (p.Thr384=)	ITIH4, ITIH4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ITIH4-related disorder	GLikely benign
Select item 3036187	NM_002218.5(ITIH4):c.760-7G>T	ITIH4, ITIH4-AS1	Single nucleotide variant (intron variant)	ITIH4-related disorder	GLikely benign
Select item 3060681	NM_002218.5(ITIH4):c.390G>A (p.Val130=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder	GBenign
Select item 3060123	NM_002218.5(ITIH4):c.254T>A (p.Ile85Asn)	ITIH4 (I85N)	Single nucleotide variant (missense variant)	ITIH4-related disorder	GBenign
Select item 3051384	NM_002218.5(ITIH4):c.252-4C>G	ITIH4	Single nucleotide variant (intron variant)	ITIH4-related disorder	GLikely benign
Select item 3058395	NM_002218.5(ITIH4):c.117C>T (p.Thr39=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder	GLikely benign
Select item 3060371	NM_002218.5(ITIH4):c.75T>C (p.Thr25=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder	GBenign
Select item 3038185	NM_002218.5(ITIH4):c.45C>T (p.Val15=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder	GLikely benign
Select item 3060430	NM_002218.5(ITIH4):c.24T>C (p.Arg8=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder	GBenign