MAPK1IP1L[gene] - ClinVar

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Items: 29

	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 3293218	NM_144578.4(MAPK1IP1L):c.17C>T (p.Ser6Leu)	MAPK1IP1L (S6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123268	NM_144578.4(MAPK1IP1L):c.62C>T (p.Ala21Val)	MAPK1IP1L (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123263	NM_144578.4(MAPK1IP1L):c.164C>T (p.Pro55Leu)	MAPK1IP1L (P55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237896	NM_144578.4(MAPK1IP1L):c.167G>C (p.Ser56Thr)	MAPK1IP1L (S56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123264	NM_144578.4(MAPK1IP1L):c.172A>G (p.Thr58Ala)	MAPK1IP1L (T58A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390425	NM_144578.4(MAPK1IP1L):c.326G>T (p.Gly109Val)	MAPK1IP1L (G109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123265	NM_144578.4(MAPK1IP1L):c.395C>T (p.Ala132Val)	MAPK1IP1L (A132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510988	NM_144578.4(MAPK1IP1L):c.401C>T (p.Thr134Ile)	MAPK1IP1L (T134I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530211	NM_144578.4(MAPK1IP1L):c.526G>A (p.Ala176Thr)	MAPK1IP1L (A176T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3123266	NM_144578.4(MAPK1IP1L):c.529C>T (p.Pro177Ser)	MAPK1IP1L (P177S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123267	NM_144578.4(MAPK1IP1L):c.547C>T (p.Pro183Ser)	MAPK1IP1L (P183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295575	NM_144578.4(MAPK1IP1L):c.580G>A (p.Val194Ile)	MAPK1IP1L (V194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461777	NM_144578.4(MAPK1IP1L):c.659C>G (p.Thr220Ser)	MAPK1IP1L (T220S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283689	NM_144578.4(MAPK1IP1L):c.691C>G (p.Pro231Ala)	MAPK1IP1L (P231A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617011	NM_144578.4(MAPK1IP1L):c.722C>T (p.Pro241Leu)	MAPK1IP1L (P241L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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

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Items: 29