Related gene-specific medical variations for Gene (Select 5593) - ClinVar - NCBI

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Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060693	NM_006259.3(PRKG2):c.629-9G>A	PRKG2, PRKG2-AS1	Single nucleotide variant (intron variant)	PRKG2-related condition	GBenign
Select item 3059189	NM_006259.3(PRKG2):c.717T>C (p.Asn239=)	PRKG2, PRKG2-AS1	Single nucleotide variant (synonymous variant)	PRKG2-related condition	GBenign
Select item 3056270	NM_006259.3(PRKG2):c.696G>A (p.Gly232=)	PRKG2, PRKG2-AS1	Single nucleotide variant (synonymous variant)	PRKG2-related condition	GLikely benign
Select item 3045689	NM_006259.3(PRKG2):c.882A>G (p.Lys294=)	PRKG2, PRKG2-AS1	Single nucleotide variant (synonymous variant)	PRKG2-related condition	GLikely benign
Select item 3041869	NM_006259.3(PRKG2):c.540G>A (p.Met180Ile)	PRKG2, PRKG2-AS1 (M180I)	Single nucleotide variant (missense variant)	PRKG2-related condition	GLikely benign
Select item 2516739	NM_006259.3(PRKG2):c.898G>T (p.Asp300Tyr)	PRKG2, PRKG2-AS1 (D300Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477643	NM_006259.3(PRKG2):c.836A>T (p.Asn279Ile)	PRKG2, PRKG2-AS1 (N279I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389900	NM_006259.3(PRKG2):c.611A>G (p.His204Arg)	PRKG2-AS1, PRKG2 (H204R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259894	NM_006259.3(PRKG2):c.532A>C (p.Lys178Gln)	PRKG2, PRKG2-AS1 (K178Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250513	NM_006259.3(PRKG2):c.550A>G (p.Met184Val)	PRKG2-AS1, PRKG2 (M184V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1326258	NM_006259.3(PRKG2):c.491dup (p.Asn164fs)	PRKG2, PRKG2-AS1 (N164fs)	Duplication (frameshift variant)	Acromesomelic dysplasia 4	GPathogenic