ClinVar for Gene (Select 153339) - ClinVar - NCBI

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Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3178934	NM_174909.5(TMEM167A):c.65C>G (p.Ala22Gly)	TMEM167A (A22G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178933	NM_174909.5(TMEM167A):c.182G>A (p.Cys61Tyr)	TMEM167A (C61Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685160	GRCh37/hg19 5q14.2(chr5:82300022-82443506)x1	SCARNA18, TMEM167A +1 more	Copy number loss	not provided	GUncertain significance
Select item 1527175	GRCh37/hg19 5q14.2-14.3(chr5:82185951-90110454)	ADGRV1, CCNH +15 more	Copy number loss	not specified	GPathogenic
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563084	GRCh37/hg19 5q14.2(chr5:82355242-82603880)x1	TMEM167A, XRCC4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441883	GRCh37/hg19 5q14.2(chr5:82095432-82688973)x3	SCARNA18, TMEM167A +1 more	Copy number gain	See cases	GUncertain significance
Select item 395412	GRCh37/hg19 5q14.2(chr5:82207342-82631072)x3	SCARNA18, TMEM167A +1 more	Copy number gain	See cases	GUncertain significance
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic