19176[HGNC] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 58306	GRCh38/hg38 14q11.2(chr14:23260803-23763521)x3	AP1G2, AP1G2-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 3268001	NM_001288746.2(CMTM5):c.14G>A (p.Arg5Gln)	CMTM5 (R5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527241	NM_001288746.2(CMTM5):c.23G>A (p.Arg8Gln)	CMTM5 (R8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228832	NM_001288746.2(CMTM5):c.70G>A (p.Ala24Thr)	CMTM5 (A24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466404	NM_001288746.2(CMTM5):c.121G>A (p.Glu41Lys)	CMTM5 (E41K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788890	NM_001288746.2(CMTM5):c.129C>T (p.Ala43=)	CMTM5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2329456	NM_001288746.2(CMTM5):c.134C>A (p.Thr45Asn)	CMTM5 (T45N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624319	NM_001288746.2(CMTM5):c.142A>C (p.Ile48Leu)	CMTM5 (I48L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146266	NM_001288746.2(CMTM5):c.155T>C (p.Phe52Ser)	CMTM5 (F52S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459000	NM_001288746.2(CMTM5):c.188C>T (p.Ala63Val)	CMTM5 (A63V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146267	NM_001288746.2(CMTM5):c.221T>A (p.Leu74His)	CMTM5 (L74H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788891	NM_001288746.2(CMTM5):c.222C>G (p.Leu74=)	CMTM5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2248879	NM_001288746.2(CMTM5):c.250C>T (p.Arg84Cys)	CMTM5 (R84C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146268	NM_001288746.2(CMTM5):c.260G>A (p.Arg87Gln)	CMTM5 (R87Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146269	NM_001288746.2(CMTM5):c.485T>A (p.Phe162Tyr)	CMTM5 (F162Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146270	NM_001288746.2(CMTM5):c.490C>T (p.Arg164Cys)	CMTM5 (R164C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146271	NM_001288746.2(CMTM5):c.496G>A (p.Val166Ile)	CMTM5 (V166I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214174	NM_001288746.2(CMTM5):c.499A>T (p.Ser167Cys)	CMTM5 (S100C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146272	NM_001288746.2(CMTM5):c.508A>G (p.Ile170Val)	CMTM5 (I103V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146273	NM_001288746.2(CMTM5):c.511A>G (p.Ile171Val)	CMTM5 (I104V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372958	NM_001288746.2(CMTM5):c.547C>T (p.Arg183Trp)	CMTM5 (R65W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146274	NM_001288746.2(CMTM5):c.548G>A (p.Arg183Gln)	CMTM5 (R116Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318691	NM_001288746.2(CMTM5):c.649G>A (p.Ala217Thr)	CMTM5 (A68T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2424248	NC_000014.8:g.(?_23586696)_(23902941_?)del	BCL2L2, BCL2L2-PABPN1 +14 more	Deletion	Specific granule deficiency	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	SLC22A17, SLC7A7 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 564100	GRCh37/hg19 14q11.2(chr14:23840034-24057640)x1	AP1G2, CMTM5 +9 more	Copy number loss	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 45