ClinVar for Gene (Select 100529211) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327044	NM_152766.5(TMEM256):c.308T>C (p.Leu103Pro)	TMEM256, TMEM256-PLSCR3 (L103P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327043	NM_152766.5(TMEM256):c.161C>A (p.Ala54Asp)	TMEM256, TMEM256-PLSCR3 (A54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327042	NM_152766.5(TMEM256):c.56C>T (p.Ala19Val)	LOC130060142, TMEM256 +1 more (A19V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3179325	NM_152766.5(TMEM256):c.239C>G (p.Thr80Ser)	TMEM256, TMEM256-PLSCR3 (T80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179324	NM_152766.5(TMEM256):c.163C>G (p.Leu55Val)	TMEM256, TMEM256-PLSCR3 (L55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620483	NM_152766.5(TMEM256):c.11C>T (p.Pro4Leu)	LOC130060142, TMEM256 +1 more (P4L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 2608072	NM_152766.5(TMEM256):c.193C>A (p.Leu65Ile)	TMEM256, TMEM256-PLSCR3 (L65I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2266256	NM_020360.4(PLSCR3):c.445G>A (p.Val149Met)	PLSCR3, TMEM256-PLSCR3 (V149M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2260726	NM_020360.4(PLSCR3):c.463C>G (p.Pro155Ala)	PLSCR3, TMEM256-PLSCR3 (P155A)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2251549	NM_020360.4(PLSCR3):c.841T>C (p.Phe281Leu)	PLSCR3, TMEM256-PLSCR3 (F216L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2249017	NM_020360.4(PLSCR3):c.38C>T (p.Ser13Leu)	PLSCR3, TMEM256-PLSCR3 (S13L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2220351	NM_020360.4(PLSCR3):c.734G>A (p.Arg245Gln)	PLSCR3, TMEM256-PLSCR3 (R245Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2216169	NM_020360.4(PLSCR3):c.55C>T (p.Pro19Ser)	PLSCR3, TMEM256-PLSCR3 (P19S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 773062	NM_020360.4(PLSCR3):c.546C>T (p.His182=)	PLSCR3, TMEM256-PLSCR3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 266078	NM_152766.5(TMEM256):c.244_265del (p.Phe82fs)	TMEM256, TMEM256-PLSCR3 (F82fs)	Deletion (frameshift variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 144281	GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3	ACADVL, ACAP1 +106 more	Copy number gain	See cases	GUncertain significance
Select item 59582	GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1	ACADVL, ACAP1 +72 more	Copy number loss	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 25