Related gene-specific medical variations for Gene (Select 79929) - ClinVar - NCBI

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Links from Gene

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353006	NM_024871.4(MAP6D1):c.304G>A (p.Ala102Thr)	LOC129938031, MAP6D1 (A102T)	Single nucleotide variant (missense variant)	MAP6D1-related disorder	GBenign
Select item 3293144	NM_024871.4(MAP6D1):c.268G>A (p.Gly90Arg)	LOC129938031, MAP6D1 (G90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293143	NM_024871.4(MAP6D1):c.361G>A (p.Gly121Ser)	LOC129938031, MAP6D1 (G121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123137	NM_024871.4(MAP6D1):c.305C>T (p.Ala102Val)	LOC129938031, MAP6D1 (A102V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3035858	NM_024871.4(MAP6D1):c.237C>T (p.Pro79=)	LOC129938032, MAP6D1	Single nucleotide variant (synonymous variant)	MAP6D1-related disorder	GBenign
Select item 2487368	NM_024871.4(MAP6D1):c.32G>T (p.Cys11Phe)	LOC129938033, MAP6D1 (C11F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479316	NM_024871.4(MAP6D1):c.86C>T (p.Thr29Ile)	LOC129938033, MAP6D1 (T29I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470280	NM_024871.4(MAP6D1):c.356C>G (p.Pro119Arg)	LOC129938031, MAP6D1 (P119R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406929	NM_024871.4(MAP6D1):c.368C>T (p.Ala123Val)	LOC129938031, MAP6D1 (A123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401202	NM_024871.4(MAP6D1):c.343G>A (p.Val115Ile)	LOC129938031, MAP6D1 (V115I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302761	NM_024871.4(MAP6D1):c.328C>A (p.Pro110Thr)	LOC129938031, MAP6D1 (P110T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance