"Eurofins Ntd Llc (ga)"[submitter] AND "TMEM216"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 502365	NM_001173990.3(TMEM216):c.-24_12del (p.Met1_Arg4del)	TMEM216	Deletion (inframe_deletion +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 193188	NM_001173990.3(TMEM216):c.-2G>T	TMEM216	Single nucleotide variant (5 prime UTR variant)	Familial aplasia of the vermis +4 more	GBenign
Select item 502341	NM_001173990.3(TMEM216):c.4C>T (p.Leu2=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 193189	NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)	TMEM216 (L2P)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 598600	NM_001173990.3(TMEM216):c.57G>T (p.Pro19=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 2 +3 more	GConflicting classifications of pathogenicity
Select item 597583	NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly)	TMEM216 (E38G)	Single nucleotide variant (missense variant +1 more)	TMEM216-related disorder +2 more	GUncertain significance
Select item 498870	NM_001173990.3(TMEM216):c.123A>T (p.Ile41=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 502773	NM_001173990.3(TMEM216):c.137-7T>A	TMEM216	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 289981	NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)	TMEM216 (V47A)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 196320	NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)	TMEM216 (V10L +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 217705	NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)	TMEM216 (R12C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 197	NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)	TMEM216 (R73L +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 2 +5 more	GPathogenic
Select item 282947	NM_001173990.3(TMEM216):c.253C>A (p.Arg85=)	TMEM216	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 289040	NM_001173990.3(TMEM216):c.277G>A (p.Val93Met)	TMEM216 (V32M +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 305078	NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)	TMEM216 (F36I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 502610	NM_001173990.3(TMEM216):c.343C>G (p.Arg115Gly)	TMEM216 (R115G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500203	NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys)	TMEM216 (R115C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 305079	NM_001173990.3(TMEM216):c.344G>A (p.Arg115His)	TMEM216 (R115H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 305080	NM_001173990.3(TMEM216):c.358A>G (p.Met120Val)	TMEM216 (M120V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 500240	NM_001173990.3(TMEM216):c.406G>A (p.Val136Met)	TMEM216 (V136M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 305081	NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)	TMEM216	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 167734	NM_001173990.3(TMEM216):c.432-11_432-10insA	TMEM216	Insertion (splice acceptor variant +1 more)	Joubert syndrome 1 +4 more	GBenign
Select item 126297	NM_001173990.3(TMEM216):c.432-1G>C	TMEM216 (R147T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign
Select item 499987	NM_001173990.3(TMEM216):c.432G>C (p.Arg144Ser)	TMEM216 (R144S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598107	NM_001173990.3(TMEM216):c.*2G>C	TMEM216	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 596974	NM_001173990.3(TMEM216):c.*6A>G	TMEM216	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance

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Items: 26