9553[HGNC] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 146623	GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1	BMP4, CDKN3 +147 more	Copy number loss	See cases	GPathogenic
Select item 3220414	NM_002806.3(PSMC6):c.13G>A (p.Gly5Ser)	PSMC6 (G5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530978	NM_002806.3(PSMC6):c.16A>C (p.Ile6Leu)	PSMC6 (I6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220415	NM_002806.5(PSMC6):c.-12C>T	PSMC6	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2206877	NM_002806.5(PSMC6):c.-9C>T	PSMC6	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 717661	NM_002806.5(PSMC6):c.-4C>T	PSMC6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3310979	NM_002806.5(PSMC6):c.110C>A (p.Thr37Asn)	PSMC6 (T37N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3220413	NM_002806.5(PSMC6):c.991A>G (p.Ile331Val)	PSMC6 (I230V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684725	GRCh37/hg19 14q22.1(chr14:53005584-53252148)x3	ERO1A, GNPNAT1 +4 more	Copy number gain	not provided	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 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 564118	GRCh37/hg19 14q22.1(chr14:53077252-53557861)x3	DDHD1, GNPNAT1 +5 more	Copy number gain	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