Related gene-specific medical variations for Gene (Select 222194) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315518	NM_198467.3(RSBN1L):c.43G>T (p.Ala15Ser)	APTR, RSBN1L (A15S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3315515	NM_198467.3(RSBN1L):c.551G>A (p.Arg184Gln)	APTR, RSBN1L (R184Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3315511	NM_198467.3(RSBN1L):c.122C>T (p.Ser41Phe)	APTR, RSBN1L (S41F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3315510	NM_198467.3(RSBN1L):c.10C>T (p.Pro4Ser)	APTR, RSBN1L (P4S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3156609	NM_198467.3(RSBN1L):c.90A>G (p.Gln30=)	APTR, RSBN1L	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3156608	NM_198467.3(RSBN1L):c.50C>T (p.Thr17Ile)	APTR, RSBN1L (T17I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3156607	NM_198467.3(RSBN1L):c.449C>T (p.Ala150Val)	APTR, RSBN1L (A150V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2621021	NM_198467.3(RSBN1L):c.425T>A (p.Leu142His)	APTR, RSBN1L (L142H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2594501	NM_198467.3(RSBN1L):c.200G>C (p.Arg67Thr)	APTR, RSBN1L (R67T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2490613	NM_198467.3(RSBN1L):c.209A>G (p.Gln70Arg)	APTR, RSBN1L (Q70R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2462434	NM_198467.3(RSBN1L):c.112G>C (p.Gly38Arg)	APTR, RSBN1L (G38R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2461266	NM_198467.3(RSBN1L):c.26A>T (p.His9Leu)	APTR, RSBN1L (H9L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2458013	NM_198467.3(RSBN1L):c.52G>A (p.Ala18Thr)	APTR, RSBN1L (A18T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2406344	NM_198467.3(RSBN1L):c.50C>A (p.Thr17Asn)	APTR, RSBN1L (T17N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2382142	NM_198467.3(RSBN1L):c.116C>G (p.Ser39Cys)	APTR, RSBN1L (S39C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2363523	NM_198467.3(RSBN1L):c.520G>A (p.Gly174Ser)	APTR, RSBN1L (G174S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2358306	NM_198467.3(RSBN1L):c.329C>T (p.Thr110Met)	APTR, RSBN1L (T110M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2317563	NM_198467.3(RSBN1L):c.553G>C (p.Glu185Gln)	APTR, RSBN1L (E185Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2305367	NM_198467.3(RSBN1L):c.395C>T (p.Pro132Leu)	APTR, RSBN1L (P132L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2286115	NM_198467.3(RSBN1L):c.190G>A (p.Gly64Arg)	APTR, RSBN1L (G64R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2264741	NM_198467.3(RSBN1L):c.14C>G (p.Pro5Arg)	APTR, RSBN1L (P5R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2228925	NM_198467.3(RSBN1L):c.325G>T (p.Gly109Cys)	APTR, RSBN1L (G109C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 22