Related gene-specific medical variations for Gene (Select 64858) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2971411	NM_001253852.3(AP4B1):c.52_53del (p.Cys18fs)	AP4B1, DCLRE1B +1 more (C18fs)	Microsatellite (frameshift variant +1 more)	Hereditary spastic paraplegia 47	GPathogenic
Select item 2783172	NM_001253852.3(AP4B1):c.41A>G (p.Lys14Arg)	AP4B1, DCLRE1B +1 more (K14R)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2256479	NM_001253852.3(AP4B1):c.38T>C (p.Leu13Pro)	AP4B1, DCLRE1B +1 more (L13P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2162467	NM_001253852.3(AP4B1):c.87C>T (p.Tyr29=)	AP4B1, DCLRE1B +1 more	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 1878601	NM_001253852.3(AP4B1):c.37C>A (p.Leu13Met)	AP4B1, DCLRE1B +1 more (L13M)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1750961	NM_001253852.3(AP4B1):c.59C>T (p.Pro20Leu)	AP4B1, DCLRE1B +1 more (P20L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1513336	NM_001253852.3(AP4B1):c.67C>A (p.Gln23Lys)	AP4B1, DCLRE1B +1 more (Q23K)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1418633	NM_001253852.3(AP4B1):c.91A>C (p.Asn31His)	AP4B1, DCLRE1B +1 more (N31H)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1408395	NM_001253852.3(AP4B1):c.3G>C (p.Met1Ile)	AP4B1, DCLRE1B +1 more (M1I)	Single nucleotide variant (missense variant +3 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1357859	NM_001253852.3(AP4B1):c.52T>G (p.Cys18Gly)	AP4B1, DCLRE1B +1 more (C18G)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1343949	NM_006594.5(AP4B1):c.-77+5G>A	LOC129931235, AP4B1 +1 more	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1271892	NM_001319947.2(DCLRE1B):c.-331+281T>C	AP4B1, DCLRE1B +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 854203	NM_001253852.3(AP4B1):c.13G>A (p.Gly5Ser)	AP4B1, DCLRE1B +1 more (G5S)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 700613	NM_001253852.3(AP4B1):c.49C>T (p.Leu17=)	AP4B1, DCLRE1B +1 more	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 647873	NM_001253852.3(AP4B1):c.56A>G (p.Asn19Ser)	AP4B1, DCLRE1B +1 more (N19S)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 588537	NM_001253852.3(AP4B1):c.-2_4delinsGCCA (p.Met1fs)	LOC129931235, AP4B1 +1 more (M1fs)	Indel (frameshift variant +3 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 388217	NM_001253852.3(AP4B1):c.-66C>G	AP4B1, DCLRE1B +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 380767	NM_006594.5(AP4B1):c.-78C>T	AP4B1, DCLRE1B +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 157726	NM_001253852.3(AP4B1):c.69A>G (p.Gln23=)	AP4B1, DCLRE1B +1 more	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign
Select item 157715	NM_001253852.3(AP4B1):c.-35G>C	AP4B1, DCLRE1B +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign

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Items: 20