Related gene-specific medical variations for Gene (Select 65062) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064085	NM_001044385.3(TMEM237):c.137-2A>G	TMEM237	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 14	GLikely pathogenic
Select item 3058647	NM_001044385.3(TMEM237):c.42+756C>G	LOC129935416, TMEM237	Single nucleotide variant (intron variant)	TMEM237-related condition	GLikely benign
Select item 2630907	NM_001044385.3(TMEM237):c.31G>C (p.Glu11Gln)	LOC129935417, TMEM237 (E11Q)	Single nucleotide variant (missense variant)	TMEM237-related condition	GUncertain significance
Select item 2437112	NM_001044385.3(TMEM237):c.889T>C (p.Ser297Pro)	TMEM237 (S289P +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 2189661	NM_001044385.3(TMEM237):c.34G>A (p.Gly12Ser)	LOC129935417, TMEM237 (G12S)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 1428547	NM_001044385.3(TMEM237):c.26T>A (p.Leu9Gln)	LOC129935417, TMEM237 (L9Q)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 1346096	NM_001044385.3(TMEM237):c.23G>A (p.Arg8Gln)	LOC129935417, TMEM237 (R8Q)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 1188230	NM_001044385.3(TMEM237):c.42+617A>G	LOC129935416, TMEM237	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1169219	NM_001044385.3(TMEM237):c.33G>A (p.Glu11=)	LOC129935417, TMEM237	Single nucleotide variant (synonymous variant)	Joubert syndrome 14	GBenign
Select item 1102712	NM_001044385.3(TMEM237):c.15G>C (p.Ser5=)	LOC129935417, TMEM237	Single nucleotide variant (synonymous variant)	Joubert syndrome 14	GLikely benign
Select item 1036679	NM_001044385.3(TMEM237):c.22C>T (p.Arg8Trp)	TMEM237, LOC129935417 (R8W)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 967699	NM_001044385.3(TMEM237):c.14C>T (p.Ser5Leu)	LOC129935417, TMEM237 (S5L)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 957799	NM_001044385.3(TMEM237):c.1A>G (p.Met1Val)	LOC129935417, TMEM237 (M1V)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 14 +1 more	GUncertain significance
Select item 949846	NM_001044385.3(TMEM237):c.31G>A (p.Glu11Lys)	LOC129935417, TMEM237 (E11K)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 733097	NM_001044385.3(TMEM237):c.24G>A (p.Arg8=)	TMEM237, LOC129935417	Single nucleotide variant (synonymous variant)	Joubert syndrome 14	GLikely benign
Select item 511680	NM_001044385.3(TMEM237):c.-45G>A	LOC129935417, TMEM237	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 333568	NM_001044385.3(TMEM237):c.-67T>G	LOC129935417, TMEM237	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333567	NM_001044385.3(TMEM237):c.-61G>A	LOC129935417, TMEM237	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333566	NM_001044385.3(TMEM237):c.-59G>A	LOC129935417, TMEM237	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333565	NM_001044385.3(TMEM237):c.-25G>A	LOC129935417, TMEM237	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 14	GLikely benign
Select item 257323	NM_001044385.3(TMEM237):c.75-6T>C	TMEM237	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 257312	NM_001044385.3(TMEM237):c.-4C>G	LOC129935417, TMEM237	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 257311	NM_001044385.3(TMEM237):c.-12G>A	LOC129935417, TMEM237	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 137672	NM_001044385.3(TMEM237):c.42+729C>G	LOC129935416, TMEM237	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 130594	NM_001044385.3(TMEM237):c.9T>G (p.Thr3=)	LOC129935417, TMEM237	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign

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Links from Gene

Items: 25