PGF[gene] - ClinVar

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Items: 31

	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 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 2373623	NM_002632.6(PGF):c.505C>T (p.Arg169Trp)	PGF (R148W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454442	NM_002632.6(PGF):c.443G>A (p.Gly148Glu)	PGF (G148E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305977	NM_002632.6(PGF):c.430C>T (p.Pro144Ser)	PGF (P143S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220622	NM_002632.6(PGF):c.400C>T (p.Arg134Trp)	PGF (R133W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334686	NM_002632.6(PGF):c.398T>A (p.Leu133Gln)	PGF (L132Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619851	NM_002632.6(PGF):c.385G>A (p.Glu129Lys)	PGF (E129K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305978	NM_002632.6(PGF):c.380G>A (p.Arg127His)	PGF (R126H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356143	NM_002632.6(PGF):c.376G>A (p.Val126Ile)	PGF (V126I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527635	NM_002632.6(PGF):c.362C>T (p.Thr121Met)	PGF (T120M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211789	NM_002632.6(PGF):c.352G>A (p.Val118Met)	PGF (V117M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287292	NM_002632.6(PGF):c.329G>T (p.Arg110Leu)	PGF (R109L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211788	NM_002632.6(PGF):c.296C>T (p.Thr99Met)	PGF (T98M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211787	NM_002632.6(PGF):c.181G>A (p.Val61Ile)	PGF (V60I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211786	NM_002632.6(PGF):c.161C>T (p.Ala54Val)	PGF (A53V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685494	GRCh37/hg19 14q24.3(chr14:74883763-77219310)x1	NPC2, PGF +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 1808281	GRCh37/hg19 14q24.3(chr14:75353951-75424406)x1	DLST, PGF +1 more	Copy number loss	not provided	GUncertain significance
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 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 815672	GRCh37/hg19 14q24.3(chr14:75205276-75507538)x3	MLH3, YLPM1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 625564	GRCh37/hg19 14q24.3(chr14:74040231-76368547)	ABCD4, ACOT2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 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 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	ACOT6, ACYP1 +59 more	Deletion	Multiple skeletal anomalies +3 more	GLikely pathogenic

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Items: 31