ClinVar for Gene (Select 51368) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325572	NM_015926.6(TEX264):c.103G>A (p.Glu35Lys)	TEX264 (E35K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325571	NM_015926.6(TEX264):c.371C>T (p.Ser124Phe)	TEX264 (S124F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3325569	NM_015926.6(TEX264):c.485G>A (p.Arg162Gln)	TEX264 (R162Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176393	NM_015926.6(TEX264):c.841G>A (p.Glu281Lys)	TEX264 (E281K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176392	NM_015926.6(TEX264):c.622G>A (p.Ala208Thr)	TEX264 (A134T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176391	NM_015926.6(TEX264):c.470C>T (p.Thr157Ile)	TEX264 (T157I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3176390	NM_015926.6(TEX264):c.299T>C (p.Leu100Pro)	TEX264 (L100P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3176389	NM_015926.6(TEX264):c.232G>A (p.Ala78Thr)	TEX264 (A78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2605072	NM_015926.6(TEX264):c.776G>C (p.Ser259Thr)	TEX264 (S259T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560346	NM_015926.6(TEX264):c.671C>T (p.Thr224Met)	TEX264 (T150M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517844	NM_015926.6(TEX264):c.922C>T (p.Pro308Ser)	TEX264 (P308S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510389	NM_015926.6(TEX264):c.283G>T (p.Ala95Ser)	TEX264 (A95S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471071	NM_015926.6(TEX264):c.121C>T (p.Pro41Ser)	TEX264 (P41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465867	NM_015926.6(TEX264):c.808G>A (p.Gly270Ser)	TEX264 (G196S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394407	NM_015926.6(TEX264):c.382C>T (p.Pro128Ser)	TEX264 (P128S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394395	NM_015926.6(TEX264):c.5C>G (p.Ser2Trp)	TEX264 (S2W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366376	NM_015926.6(TEX264):c.134A>G (p.Asn45Ser)	TEX264 (N45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355044	NM_015926.6(TEX264):c.455A>G (p.His152Arg)	TEX264 (H152R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2342341	NM_015926.6(TEX264):c.29T>C (p.Ile10Thr)	TEX264 (I10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335218	NM_015926.6(TEX264):c.166C>A (p.Leu56Ile)	TEX264 (L56I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314254	NM_015926.6(TEX264):c.379G>T (p.Ala127Ser)	TEX264 (A127S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2274984	NM_015926.6(TEX264):c.391G>A (p.Val131Met)	TEX264 (V131M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2263934	NM_015926.6(TEX264):c.704G>A (p.Ser235Asn)	TEX264 (S161N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211930	NM_015926.6(TEX264):c.161T>C (p.Met54Thr)	TEX264 (M54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 814444	GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3	ABHD14A, ABHD14B +48 more	Copy number gain	not provided	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 31