100885776[Gene ID] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 2322189	NM_174921.3(SMIM14):c.274G>T (p.Asp92Tyr)	SMIM14, UGDH-AS1 (D92Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368426	NM_174921.3(SMIM14):c.230G>A (p.Gly77Glu)	SMIM14, UGDH-AS1 (G77E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221991	NM_174921.3(SMIM14):c.127C>T (p.Pro43Ser)	SMIM14, UGDH-AS1 (P43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57857	GRCh38/hg38 4p14(chr4:39571714-40297938)x3	LOC123477730, LOC126807038 +36 more	Copy number gain	See cases	GUncertain significance

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