ClinVar for MedGen (Select 325237) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24252221.	NC_000020.10:g.(?_57009638)_(57019291_?)dup GRCh37: Chr20:57009638-57019291	VAPB		Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Uncertain significance (Oct 28, 2021)	criteria provided, single submitter
Select item 24142942.	NM_004738.5(VAPB):c.93G>T (p.Lys31Asn) GRCh37: Chr20:56993301 GRCh38: Chr20:58418245	VAPB	K31N	Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 21955953.	NM_004738.5(VAPB):c.99C>T (p.Gly33=) GRCh37: Chr20:56993307 GRCh38: Chr20:58418251	VAPB		Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 21949504.	NM_004738.5(VAPB):c.434C>T (p.Ala145Val) GRCh37: Chr20:57016000 GRCh38: Chr20:58440944	VAPB	A145V	Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 21875465.	NM_004738.5(VAPB):c.455T>C (p.Ile152Thr) GRCh37: Chr20:57016021 GRCh38: Chr20:58440965	VAPB	I152T	Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 21760646.	NM_004738.5(VAPB):c.542A>G (p.Gln181Arg) GRCh37: Chr20:57016108 GRCh38: Chr20:58441052	VAPB	Q181R	Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 21703007.	NM_004738.5(VAPB):c.59-11_59-10del GRCh37: Chr20:56993254-56993255 GRCh38: Chr20:58418198-58418199	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 21644688.	NM_004738.5(VAPB):c.563A>G (p.Lys188Arg) GRCh37: Chr20:57016129 GRCh38: Chr20:58441073	VAPB	K188R	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 21608969.	NM_004738.5(VAPB):c.384G>A (p.Glu128=) GRCh37: Chr20:57014069 GRCh38: Chr20:58439013	VAPB		Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 215824910.	NM_004738.5(VAPB):c.59-3C>T GRCh37: Chr20:56993264 GRCh38: Chr20:58418208	VAPB		Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 215450211.	NM_004738.5(VAPB):c.573+16C>A GRCh37: Chr20:57016155 GRCh38: Chr20:58441099	VAPB		Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Likely benign (Apr 2, 2022)	criteria provided, single submitter
Select item 215264912.	NM_004738.5(VAPB):c.242A>G (p.Asn81Ser) GRCh37: Chr20:57009688 GRCh38: Chr20:58434632	VAPB	N81S	Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 214896313.	NM_004738.5(VAPB):c.547C>T (p.Leu183=) GRCh37: Chr20:57016113 GRCh38: Chr20:58441057	VAPB		Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 212230614.	NM_004738.5(VAPB):c.256C>G (p.His86Asp) GRCh37: Chr20:57009702 GRCh38: Chr20:58434646	VAPB	H86D	Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 211245615.	NM_004738.5(VAPB):c.31G>C (p.Glu11Gln) GRCh37: Chr20:56964546 GRCh38: Chr20:58389490	VAPB	E11Q	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 209879216.	NM_004738.5(VAPB):c.151A>G (p.Arg51Gly) GRCh37: Chr20:56993359 GRCh38: Chr20:58418303	VAPB	R51G	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 207965217.	NM_004738.5(VAPB):c.402T>C (p.Asp134=) GRCh37: Chr20:57015968 GRCh38: Chr20:58440912	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 207149018.	NM_004738.5(VAPB):c.563dup (p.Gln189fs) GRCh37: Chr20:57016127-57016128 GRCh38: Chr20:58441071-58441072	VAPB	Q189fs	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 206649719.	NM_004738.5(VAPB):c.59-20G>A GRCh37: Chr20:56993247 GRCh38: Chr20:58418191	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Benign (Feb 25, 2022)	criteria provided, single submitter
Select item 206217220.	NM_004738.5(VAPB):c.178A>G (p.Ile60Val) GRCh37: Chr20:56993386 GRCh38: Chr20:58418330	VAPB	I60V	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 205474521.	NM_004738.5(VAPB):c.58+18C>T GRCh37: Chr20:56964591 GRCh38: Chr20:58389535	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Likely benign (Jun 21, 2022)	criteria provided, single submitter
Select item 205156522.	NM_004738.5(VAPB):c.149G>T (p.Arg50Leu) GRCh37: Chr20:56993357 GRCh38: Chr20:58418301	VAPB	R50L	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 204967523.	NM_004738.5(VAPB):c.640A>G (p.Thr214Ala) GRCh37: Chr20:57019199 GRCh38: Chr20:58444143	VAPB	N93S, T214A	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 204746824.	NM_004738.5(VAPB):c.301G>C (p.Asp101His) GRCh37: Chr20:57009747 GRCh38: Chr20:58434691	VAPB	D101H	Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 204067425.	NM_004738.5(VAPB):c.340C>G (p.Leu114Val) GRCh37: Chr20:57014025 GRCh38: Chr20:58438969	VAPB	L114V	Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 203962526.	NM_004738.5(VAPB):c.680T>C (p.Leu227Pro) GRCh37: Chr20:57019239 GRCh38: Chr20:58444183	VAPB	L227P	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 203762027.	NM_004738.5(VAPB):c.305T>C (p.Met102Thr) GRCh37: Chr20:57009751 GRCh38: Chr20:58434695	VAPB	M102T	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 202792428.	NM_004738.5(VAPB):c.212-6_212-5insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCGCGGCTGCGGCCTGGGGAGCGGGTGCGCGTTGGTGGTGCGCGCGAGGGCGAGGGCCAGGGAGAGGGAGAGGGAGAGGGAGCGAAATATTTTCTTT GRCh37: Chr20:57009638-57009639 GRCh38: Chr20:58434582-58434583	VAPB		Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 202333629.	NM_004738.5(VAPB):c.166_167delinsGA (p.Pro56Asp) GRCh37: Chr20:56993374-56993375 GRCh38: Chr20:58418318-58418319	VAPB	P56D	Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 201680030.	NM_004738.5(VAPB):c.602C>T (p.Thr201Ile) GRCh37: Chr20:57019161 GRCh38: Chr20:58444105	VAPB	T201I	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 198319831.	NM_004738.5(VAPB):c.193G>A (p.Ala65Thr) GRCh37: Chr20:56993401 GRCh38: Chr20:58418345	VAPB	A65T	Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 198240632.	NM_004738.5(VAPB):c.309A>G (p.Glu103=) GRCh37: Chr20:57009755 GRCh38: Chr20:58434699	VAPB		Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 196342633.	NM_004738.5(VAPB):c.229G>A (p.Asp77Asn) GRCh37: Chr20:57009675 GRCh38: Chr20:58434619	VAPB	D77N	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Apr 5, 2022)	criteria provided, single submitter
Select item 196084934.	NM_004738.5(VAPB):c.719A>G (p.Lys240Arg) GRCh37: Chr20:57019278 GRCh38: Chr20:58444222	VAPB	K240R	Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 177786635.	NM_004738.5(VAPB):c.167C>G (p.Pro56Arg) GRCh37: Chr20:56993375 GRCh38: Chr20:58418319	VAPB	P56R	Inborn genetic diseases, Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Uncertain significance (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175667636.	NM_004738.5(VAPB):c.700G>A (p.Val234Ile) GRCh37: Chr20:57019259 GRCh38: Chr20:58444203	VAPB	V234I	Inborn genetic diseases, Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Conflicting interpretations of pathogenicity (May 15, 2022)	criteria provided, conflicting interpretations
Select item 172007837.	NM_004738.5(VAPB):c.116A>T (p.Asn39Ile) GRCh37: Chr20:56993324 GRCh38: Chr20:58418268	VAPB	N39I	Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 171816338.	NM_004738.5(VAPB):c.610A>G (p.Ser204Gly) GRCh37: Chr20:57019169 GRCh38: Chr20:58444113	VAPB	E83G, S204G	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 171364039.	NM_004738.5(VAPB):c.109G>C (p.Asp37His) GRCh37: Chr20:56993317 GRCh38: Chr20:58418261	VAPB	D37H	Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 167158340.	NM_004738.5(VAPB):c.378A>G (p.Pro126=) GRCh37: Chr20:57014063 GRCh38: Chr20:58439007	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Likely benign (Jul 13, 2021)	criteria provided, single submitter
Select item 167087241.	NM_004738.5(VAPB):c.211+19G>A GRCh37: Chr20:56993438 GRCh38: Chr20:58418382	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 166645042.	NM_004738.5(VAPB):c.315+15C>A GRCh37: Chr20:57009776 GRCh38: Chr20:58434720	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 163008843.	NM_004738.5(VAPB):c.573+18G>A GRCh37: Chr20:57016157 GRCh38: Chr20:58441101	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 162299444.	NM_004738.5(VAPB):c.564G>A (p.Lys188=) GRCh37: Chr20:57016130 GRCh38: Chr20:58441074	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 162135145.	NM_004738.5(VAPB):c.574-14G>A GRCh37: Chr20:57019119 GRCh38: Chr20:58444063	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 158868246.	NM_004738.5(VAPB):c.397-16A>G GRCh37: Chr20:57015947 GRCh38: Chr20:58440891	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Likely benign (Jun 29, 2021)	criteria provided, single submitter
Select item 155660647.	NM_004738.5(VAPB):c.117T>C (p.Asn39=) GRCh37: Chr20:56993325 GRCh38: Chr20:58418269	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Likely benign (May 4, 2021)	criteria provided, single submitter
Select item 154530448.	NM_004738.5(VAPB):c.58+13G>A GRCh37: Chr20:56964586 GRCh38: Chr20:58389530	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Likely benign (Sep 3, 2021)	criteria provided, single submitter
Select item 154387749.	NM_004738.5(VAPB):c.316-17A>T GRCh37: Chr20:57013984 GRCh38: Chr20:58438928	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Likely benign (Aug 23, 2021)	criteria provided, single submitter
Select item 153961750.	NM_004738.5(VAPB):c.699C>T (p.Ile233=) GRCh37: Chr20:57019258 GRCh38: Chr20:58444202	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 153066451.	NM_004738.5(VAPB):c.316-17A>C GRCh37: Chr20:57013984 GRCh38: Chr20:58438928	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Benign (Aug 23, 2022)	criteria provided, single submitter
Select item 152528152.	NM_004738.5(VAPB):c.86A>G (p.Asn29Ser) GRCh37: Chr20:56993294 GRCh38: Chr20:58418238	VAPB	N29S	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 151406753.	NM_004738.5(VAPB):c.601A>T (p.Thr201Ser) GRCh37: Chr20:57019160 GRCh38: Chr20:58444104	VAPB	T201S, D80V	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 147077054.	NM_004738.5(VAPB):c.209C>T (p.Ser70Phe) GRCh37: Chr20:56993417 GRCh38: Chr20:58418361	VAPB	S70F	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Aug 16, 2021)	criteria provided, single submitter
Select item 146310555.	NM_004738.5(VAPB):c.677C>A (p.Ala226Asp) GRCh37: Chr20:57019236 GRCh38: Chr20:58444180	VAPB	A226D	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 144464056.	NM_004738.5(VAPB):c.589C>T (p.Arg197Trp) GRCh37: Chr20:57019148 GRCh38: Chr20:58444092	VAPB	R197W, A76V	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 142578257.	NM_004738.5(VAPB):c.233A>G (p.Tyr78Cys) GRCh37: Chr20:57009679 GRCh38: Chr20:58434623	VAPB	Y78C	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 142344258.	NM_004738.5(VAPB):c.224C>G (p.Pro75Arg) GRCh37: Chr20:57009670 GRCh38: Chr20:58434614	VAPB	P75R	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 140974859.	NM_004738.5(VAPB):c.110A>C (p.Asp37Ala) GRCh37: Chr20:56993318 GRCh38: Chr20:58418262	VAPB	D37A	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 140864860.	NM_004738.5(VAPB):c.82A>G (p.Thr28Ala) GRCh37: Chr20:56993290 GRCh38: Chr20:58418234	VAPB	T28A	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Aug 2, 2021)	criteria provided, single submitter
Select item 138875861.	NM_004738.5(VAPB):c.472A>C (p.Ser158Arg) GRCh37: Chr20:57016038 GRCh38: Chr20:58440982	VAPB	S158R	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8, Inborn genetic diseases	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 138674662.	NM_004738.5(VAPB):c.550C>T (p.Arg184Trp) GRCh37: Chr20:57016116 GRCh38: Chr20:58441060	VAPB	R184W	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 138070263.	NM_004738.5(VAPB):c.532G>A (p.Gly178Ser) GRCh37: Chr20:57016098 GRCh38: Chr20:58441042	VAPB	G178S	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 137191964.	NM_004738.5(VAPB):c.13G>A (p.Glu5Lys) GRCh37: Chr20:56964528 GRCh38: Chr20:58389472	VAPB	E5K	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 135709765.	NM_004738.5(VAPB):c.85A>G (p.Asn29Asp) GRCh37: Chr20:56993293 GRCh38: Chr20:58418237	VAPB	N29D	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 132737066.	NM_004738.5(VAPB):c.502_503delinsGT (p.Lys168Val) GRCh37: Chr20:57016068-57016069 GRCh38: Chr20:58441012-58441013	VAPB	K168V	not provided, Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Nov 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 116466567.	NM_004738.5(VAPB):c.681G>A (p.Leu227=) GRCh37: Chr20:57019240 GRCh38: Chr20:58444184	VAPB		Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Benign (Aug 9, 2020)	criteria provided, single submitter
Select item 114441868.	NM_004738.5(VAPB):c.465G>A (p.Lys155=) GRCh37: Chr20:57016031 GRCh38: Chr20:58440975	VAPB		Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Likely benign (Feb 21, 2021)	criteria provided, single submitter
Select item 114337269.	NM_004738.5(VAPB):c.486T>A (p.Asp162Glu) GRCh37: Chr20:57016052 GRCh38: Chr20:58440996	VAPB	D162E	Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Likely benign (Mar 7, 2021)	criteria provided, single submitter
Select item 113985570.	NM_004738.5(VAPB):c.111C>T (p.Asp37=) GRCh37: Chr20:56993319 GRCh38: Chr20:58418263	VAPB		Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Likely benign (Mar 18, 2020)	criteria provided, single submitter
Select item 112753171.	NM_004738.5(VAPB):c.597G>A (p.Arg199=) GRCh37: Chr20:57019156 GRCh38: Chr20:58444100	VAPB	E79K	Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 112435772.	NM_004738.5(VAPB):c.375G>A (p.Leu125=) GRCh37: Chr20:57014060 GRCh38: Chr20:58439004	VAPB		Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Likely benign (Nov 25, 2019)	criteria provided, single submitter
Select item 112135873.	NM_004738.5(VAPB):c.189A>C (p.Ala63=) GRCh37: Chr20:56993397 GRCh38: Chr20:58418341	VAPB		Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Likely benign (Aug 14, 2019)	criteria provided, single submitter
Select item 110564074.	NM_004738.5(VAPB):c.651A>G (p.Glu217=) GRCh37: Chr20:57019210 GRCh38: Chr20:58444154	VAPB	R97G	Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 110528275.	NM_004738.5(VAPB):c.163A>C (p.Arg55=) GRCh37: Chr20:56993371 GRCh38: Chr20:58418315	VAPB		Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Likely benign (Jul 24, 2019)	criteria provided, single submitter
Select item 108597476.	NM_004738.5(VAPB):c.78C>T (p.Val26=) GRCh37: Chr20:56993286 GRCh38: Chr20:58418230	VAPB		Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 108185977.	NM_004738.5(VAPB):c.252T>C (p.Ser84=) GRCh37: Chr20:57009698 GRCh38: Chr20:58434642	VAPB		Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Likely benign (Sep 30, 2020)	criteria provided, single submitter
Select item 106269578.	NM_004738.5(VAPB):c.38A>C (p.Gln13Pro) GRCh37: Chr20:56964553 GRCh38: Chr20:58389497	VAPB	Q13P	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 105570579.	NM_004738.5(VAPB):c.246G>C (p.Glu82Asp) GRCh37: Chr20:57009692 GRCh38: Chr20:58434636	VAPB	E82D	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 105171680.	NM_004738.5(VAPB):c.677C>T (p.Ala226Val) GRCh37: Chr20:57019236 GRCh38: Chr20:58444180	VAPB	A226V	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 105024381.	NM_004738.5(VAPB):c.535G>A (p.Glu179Lys) GRCh37: Chr20:57016101 GRCh38: Chr20:58441045	VAPB	E179K	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 104778382.	NM_004738.5(VAPB):c.622A>G (p.Ile208Val) GRCh37: Chr20:57019181 GRCh38: Chr20:58444125	VAPB	I208V, H87R	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 104455083.	NM_004738.5(VAPB):c.518G>A (p.Cys173Tyr) GRCh37: Chr20:57016084 GRCh38: Chr20:58441028	VAPB	C173Y	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 104287184.	NM_004738.5(VAPB):c.635C>A (p.Ala212Asp) GRCh37: Chr20:57019194 GRCh38: Chr20:58444138	VAPB	A212D, S91R	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 101500785.	NM_004738.5(VAPB):c.35C>T (p.Pro12Leu) GRCh37: Chr20:56964550 GRCh38: Chr20:58389494	VAPB	P12L	Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant, not provided	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 100923086.	NM_004738.5(VAPB):c.421A>G (p.Ile141Val) GRCh37: Chr20:57015987 GRCh38: Chr20:58440931	VAPB	I141V	Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 99914187.	NM_004738.5(VAPB):c.457G>A (p.Val153Met) GRCh37: Chr20:57016023 GRCh38: Chr20:58440967	VAPB	V153M	Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 97852188.	NM_004738.5(VAPB):c.659T>G (p.Leu220Arg) GRCh37: Chr20:57019218 GRCh38: Chr20:58444162	VAPB	L220R	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 95127889.	NM_004738.5(VAPB):c.315A>G (p.Val105=) GRCh37: Chr20:57009761 GRCh38: Chr20:58434705	VAPB		Inborn genetic diseases, Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 94434590.	NM_004738.5(VAPB):c.655G>C (p.Gly219Arg) GRCh37: Chr20:57019214 GRCh38: Chr20:58444158	VAPB	G219R, R98T	Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 89935591.	NM_004738.5(VAPB):c.*4929C>T GRCh37: Chr20:57024220 GRCh38: Chr20:58449164	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89929292.	NM_004738.5(VAPB):c.*4023A>G GRCh37: Chr20:57023314 GRCh38: Chr20:58448258	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89929193.	NM_004738.5(VAPB):c.*3968C>T GRCh37: Chr20:57023259 GRCh38: Chr20:58448203	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89923894.	NM_004738.5(VAPB):c.*3305C>G GRCh37: Chr20:57022596 GRCh38: Chr20:58447540	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89917995.	NM_004738.5(VAPB):c.*2733G>A GRCh37: Chr20:57022024 GRCh38: Chr20:58446968	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89912096.	NM_004738.5(VAPB):c.*1641G>A GRCh37: Chr20:57020932 GRCh38: Chr20:58445876	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89911997.	NM_004738.5(VAPB):c.*1563G>C GRCh37: Chr20:57020854 GRCh38: Chr20:58445798	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89905898.	NM_004738.5(VAPB):c.*861T>C GRCh37: Chr20:57020152 GRCh38: Chr20:58445096	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89905799.	NM_004738.5(VAPB):c.*774G>A GRCh37: Chr20:57020065 GRCh38: Chr20:58445009	VAPB		Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 898907100.	NM_004738.5(VAPB):c.-166G>A GRCh37: Chr20:56964350 GRCh38: Chr20:58389294	LOC130066253, VAPB		Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter

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