26022[geneid] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2541170	NM_015544.3(TMEM98):c.13G>T (p.Val5Leu)	TMEM98 (V5L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601206	NM_015544.3(TMEM98):c.97C>T (p.Arg33Trp)	TMEM98 (R33W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382566	NM_015544.3(TMEM98):c.118C>T (p.Arg40Cys)	TMEM98 (R40C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059403	NM_015544.3(TMEM98):c.131+9G>C	TMEM98	Single nucleotide variant (intron variant)	TMEM98-related disorder	GBenign
Select item 2312115	NM_015544.3(TMEM98):c.167A>C (p.Gln56Pro)	TMEM98 (Q56P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179766	NM_015544.3(TMEM98):c.175C>A (p.Pro59Thr)	TMEM98 (P59T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 224332	NM_015544.3(TMEM98):c.236_263+6del	TMEM98	Deletion (splice donor variant)	Nanophthalmos 4	GPathogenic
Select item 790720	NM_015544.3(TMEM98):c.247T>C (p.Trp83Arg)	TMEM98 (W83R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3035795	NM_015544.3(TMEM98):c.378C>T (p.Ser126=)	LOC121587587, TMEM98	Single nucleotide variant (synonymous variant)	TMEM98-related disorder	GLikely benign
Select item 3179767	NM_015544.3(TMEM98):c.391G>A (p.Val131Met)	LOC121587587, TMEM98 (V131M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387494	NM_015544.3(TMEM98):c.401G>A (p.Arg134Gln)	LOC121587587, TMEM98 (R134Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486520	NM_015544.3(TMEM98):c.415G>A (p.Val139Met)	TMEM98 (V139M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179768	NM_015544.3(TMEM98):c.432G>T (p.Lys144Asn)	TMEM98 (K144N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327241	NM_015544.3(TMEM98):c.436A>C (p.Met146Leu)	TMEM98 (M146L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381287	NM_015544.3(TMEM98):c.460C>T (p.Leu154Phe)	TMEM98 (L154F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031537	NM_015544.3(TMEM98):c.468C>T (p.Asp156=)	TMEM98	Single nucleotide variant (synonymous variant)	TMEM98-related disorder	GLikely benign
Select item 3327240	NM_015544.3(TMEM98):c.469G>A (p.Ala157Thr)	TMEM98 (A157T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790428	NM_015544.3(TMEM98):c.504C>T (p.His168=)	TMEM98	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 155721	NM_015544.3(TMEM98):c.577G>C (p.Ala193Pro)	TMEM98 (A193P)	Single nucleotide variant (missense variant)	Nanophthalmos 4	GPathogenic
Select item 224331	NM_015544.3(TMEM98):c.587A>C (p.His196Pro)	TMEM98 (H196P)	Single nucleotide variant (missense variant)	Nanophthalmos 4	GPathogenic
Select item 3327242	NM_015544.3(TMEM98):c.610G>A (p.Ala204Thr)	TMEM98 (A204T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 1526573	GRCh37/hg19 17q11.2-12(chr17:30497948-31819040)	ASIC2, C17orf75 +8 more	Copy number loss	not specified	GUncertain significance
Select item 981056	GRCh37/hg19 17q11.2-12(chr17:29989741-32355632)	LRRC37B, CDK5R1 +12 more	Copy number loss	Nanophthalmos 4 +2 more	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 443455	GRCh37/hg19 17q11.2-12(chr17:29578241-32142196)x1	ASIC2, C17orf75 +18 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 29