CGRRF1[gene] - ClinVar

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Items: 33

	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 3061843	GRCh38/hg38 14q22.2-22.3(chr14:53949639-56297420)x1	LOC130055670, LOC130055671 +89 more	Copy number loss	Dystonia 5	GPathogenic
Select item 3143971	NM_006568.3(CGRRF1):c.19G>T (p.Val7Leu)	CGRRF1 (V7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260598	NM_006568.3(CGRRF1):c.160A>G (p.Thr54Ala)	CGRRF1 (T54A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404343	NM_006568.3(CGRRF1):c.257T>G (p.Leu86Trp)	CGRRF1 (L86W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395149	NM_006568.3(CGRRF1):c.278A>C (p.Asp93Ala)	CGRRF1 (D93A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480210	NM_006568.3(CGRRF1):c.284T>C (p.Leu95Pro)	CGRRF1 (L95P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486803	NM_006568.3(CGRRF1):c.339G>T (p.Lys113Asn)	CGRRF1 (K113N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143972	NM_006568.3(CGRRF1):c.381A>T (p.Glu127Asp)	CGRRF1 (E127D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710468	NM_006568.3(CGRRF1):c.553C>T (p.Arg185Trp)	CGRRF1 (R185W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3143973	NM_006568.3(CGRRF1):c.652G>A (p.Ala218Thr)	CGRRF1 (A218T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266762	NM_006568.3(CGRRF1):c.700A>G (p.Asn234Asp)	CGRRF1 (N234D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383488	NM_006568.3(CGRRF1):c.749A>G (p.Asp250Gly)	CGRRF1 (D250G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266761	NM_006568.3(CGRRF1):c.800C>T (p.Ser267Leu)	CGRRF1 (S267L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595393	NM_006568.3(CGRRF1):c.856C>T (p.Leu286Phe)	CGRRF1 (L286F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143974	NM_006568.3(CGRRF1):c.912G>T (p.Gln304His)	CGRRF1 (Q304H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718035	NM_006568.3(CGRRF1):c.987G>A (p.Pro329=)	CGRRF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3338471	GRCh37/hg19 14q22.2-22.3(chr14:54866611-57272174)x1	ATG14, CDKN3 +16 more	Copy number loss	Syndromic microphthalmia type 5	GLikely pathogenic
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 2422501	NC_000014.8:g.(?_54410919)_(55369403_?)del	BMP4, CDKN3 +5 more	Deletion	GTP cyclohydrolase I deficiency +1 more	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 1527818	GRCh37/hg19 14q22.1-22.3(chr14:53241194-55803026)	BMP4, CDKN3 +15 more	Copy number loss	not specified	GPathogenic
Select item 1455396	NC_000014.8:g.(?_54416750)_(55369403_?)del	BMP4, CDKN3 +5 more	Deletion	Microphthalmia with brain and digit anomalies +1 more	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 564132	GRCh37/hg19 14q22.2-22.3(chr14:54530302-55812050)x3	GCH1, LGALS3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 564130	GRCh37/hg19 14q22.2(chr14:54250363-55362006)x1	GMFB, CDKN3 +5 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 443201	GRCh37/hg19 14q22.1-22.2(chr14:53820659-55003253)x1	BMP4, CDKN3 +3 more	Copy number loss	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

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Items: 33