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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 811265	NM_005529.7(HSPG2):c.13159C>T (p.Arg4387Cys)	HSPG2, LDLRAD2 (R4387C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 295693	NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp)	HSPG2, LDLRAD2 (A4382D +1 more)	Single nucleotide variant (missense variant +1 more)	HSPG2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 295694	NM_005529.7(HSPG2):c.13119C>T (p.Pro4373=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 811184	NM_005529.7(HSPG2):c.13096C>T (p.Pro4366Ser)	HSPG2, LDLRAD2 (P4366S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 995707	NM_005529.7(HSPG2):c.13094G>A (p.Arg4365Gln)	HSPG2, LDLRAD2 (R4365Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 790476	NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu)	HSPG2, LDLRAD2 (S4364L +1 more)	Single nucleotide variant (missense variant +1 more)	HSPG2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 295695	NM_005529.7(HSPG2):c.13050A>G (p.Ser4350=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 499443	NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)	HSPG2, LDLRAD2 (V4340M +1 more)	Single nucleotide variant (missense variant +1 more)	HSPG2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 994198	NM_005529.7(HSPG2):c.12994G>T (p.Val4332Phe)	HSPG2, LDLRAD2 (V4332F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 295699	NM_005529.7(HSPG2):c.12994G>A (p.Val4332Ile)	HSPG2, LDLRAD2 (V4332I +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal Kniest-like syndrome +2 more	GBenign
Select item 282934	NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)	HSPG2, LDLRAD2 (A4328T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 295701	NM_005529.7(HSPG2):c.12952C>A (p.Arg4318=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 788284	NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln)	HSPG2, LDLRAD2 (R4296Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 199234	NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys)	HSPG2, LDLRAD2 (E4292K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 295703	NM_001013693.3(LDLRAD2):c.*2087C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	Connective tissue disorder +4 more	GBenign
Select item 618174	NM_005529.7(HSPG2):c.12801G>T (p.Gly4267=)	LDLRAD2, HSPG2	Single nucleotide variant (synonymous variant +1 more)	Schwartz-Jampel syndrome +4 more	GBenign/Likely benign
Select item 993744	NM_001013693.3(LDLRAD2):c.*2629C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 295705	NM_005529.7(HSPG2):c.12558C>T (p.Ser4186=)	HSPG2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GBenign
Select item 1629445	NM_005529.7(HSPG2):c.12238-18G>A	HSPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 876568	NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu)	HSPG2 (R4038L +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 295709	NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 727761	NM_005529.7(HSPG2):c.12012C>T (p.Ser4004=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 198971	NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val)	HSPG2 (L4002V +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 439796	NM_005529.7(HSPG2):c.11993-151A>G	HSPG2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 618168	NM_005529.7(HSPG2):c.11992+35A>G	HSPG2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 618169	NM_005529.7(HSPG2):c.11992+23G>A	HSPG2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 618685	NM_005529.7(HSPG2):c.11988G>A (p.Gly3996=)	HSPG2	Single nucleotide variant (synonymous variant)	HSPG2-related condition +1 more	GLikely benign
Select item 2068712	NM_005529.7(HSPG2):c.11983T>C (p.Leu3995=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1806893	NM_005529.7(HSPG2):c.11982G>T (p.Glu3994Asp)	HSPG2 (E3994D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 439804	NM_005529.7(HSPG2):c.11938G>A (p.Val3980Met)	HSPG2 (V3980M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 790298	NM_005529.7(HSPG2):c.11937C>T (p.Phe3979=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 594359	NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu)	HSPG2 (V3955L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 295711	NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr)	HSPG2 (A3943T +1 more)	Single nucleotide variant (missense variant)	HSPG2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 198963	NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln)	HSPG2 (R3906Q +1 more)	Single nucleotide variant (missense variant)	HSPG2-related condition +3 more	GBenign/Likely benign
Select item 780221	NM_005529.7(HSPG2):c.11685C>G (p.Pro3895=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 295713	NM_005529.7(HSPG2):c.11671+15C>T	HSPG2	Single nucleotide variant (intron variant)	Lethal Kniest-like syndrome +2 more	GBenign/Likely benign
Select item 875624	NM_005529.7(HSPG2):c.11671+11C>T	HSPG2	Single nucleotide variant (intron variant)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 295714	NM_005529.7(HSPG2):c.11671+5G>A	HSPG2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 876624	NM_005529.7(HSPG2):c.11602G>A (p.Val3868Met)	HSPG2 (V3868M +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +2 more	GUncertain significance
Select item 295717	NM_005529.7(HSPG2):c.11568C>T (p.Gly3856=)	HSPG2	Single nucleotide variant (synonymous variant)	HSPG2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 198958	NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=)	HSPG2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 295721	NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn)	HSPG2 (S3765N +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 811744	NM_005529.7(HSPG2):c.11291G>A (p.Arg3764His)	HSPG2 (R3764H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 724701	NM_005529.7(HSPG2):c.11256G>A (p.Leu3752=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 811721	NM_005529.7(HSPG2):c.11206C>T (p.Arg3736Trp)	HSPG2 (R3736W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 597728	NM_005529.7(HSPG2):c.11169C>T (p.Phe3723=)	HSPG2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 876667	NM_005529.7(HSPG2):c.11077C>T (p.Arg3693Trp)	HSPG2 (R3693W +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +3 more	GUncertain significance
Select item 295725	NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile)	HSPG2 (T3691I +1 more)	Single nucleotide variant (missense variant)	HSPG2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 198680	NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His)	HSPG2 (R3646H +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 295726	NM_005529.7(HSPG2):c.10918G>A (p.Val3640Ile)	HSPG2 (V3640I +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GBenign
Select item 727762	NM_005529.7(HSPG2):c.10917C>T (p.Tyr3639=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 811039	NM_005529.7(HSPG2):c.10721-8C>T	HSPG2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 446053	NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile)	HSPG2 (V3568I +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +4 more	GBenign/Likely benign
Select item 295731	NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=)	HSPG2	Single nucleotide variant (synonymous variant)	HSPG2-related condition +5 more	GBenign/Likely benign
Select item 876711	NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg)	HSPG2 (G3538R +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +3 more	GConflicting classifications of pathogenicity
Select item 288906	NM_005529.7(HSPG2):c.10512C>T (p.His3504=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 198669	NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met)	HSPG2 (V3500M +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1 +6 more	GBenign/Likely benign
Select item 439811	NM_005529.7(HSPG2):c.10460C>A (p.Pro3487His)	HSPG2 (P3487H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 810881	NM_005529.7(HSPG2):c.10355+85G>T	HSPG2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 295739	NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln)	HSPG2 (R3427Q +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +4 more	GConflicting classifications of pathogenicity
Select item 295743	NM_005529.7(HSPG2):c.10248C>T (p.Ser3416=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 295745	NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met)	HSPG2 (V3402M +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +2 more	GConflicting classifications of pathogenicity
Select item 585970	NM_005529.7(HSPG2):c.10151-8C>T	HSPG2	Single nucleotide variant (intron variant)	Schwartz-Jampel syndrome +2 more	GBenign
Select item 295746	NM_005529.7(HSPG2):c.10110G>A (p.Lys3370=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 439808	NM_005529.7(HSPG2):c.10045C>G (p.Leu3349Val)	HSPG2 (L3349V +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +3 more	GBenign/Likely benign
Select item 295748	NM_005529.7(HSPG2):c.9945G>A (p.Thr3315=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +2 more	GBenign/Likely benign
Select item 1118860	NM_005529.7(HSPG2):c.9909G>A (p.Thr3303=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 993985	NM_005529.7(HSPG2):c.9893C>T (p.Pro3298Leu)	HSPG2 (P3298L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 295750	NM_005529.7(HSPG2):c.9852T>C (p.Ala3284=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 994170	NM_005529.7(HSPG2):c.9836A>G (p.Asn3279Ser)	HSPG2 (N3279S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 295751	NM_005529.7(HSPG2):c.9790A>G (p.Ile3264Val)	HSPG2 (I3264V +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GBenign
Select item 447569	NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=)	HSPG2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +2 more	GBenign/Likely benign
Select item 295754	NM_005529.7(HSPG2):c.9732C>T (p.His3244=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +3 more	GBenign
Select item 376803	NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val)	HSPG2 (A3240V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1330932	NM_005529.7(HSPG2):c.9717C>T (p.Pro3239=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 618170	NM_005529.7(HSPG2):c.9710-65G>A	HSPG2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 295756	NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His)	HSPG2 (Q3188H +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 295757	NM_005529.7(HSPG2):c.9540G>A (p.Ala3180=)	HSPG2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 447568	NM_005529.7(HSPG2):c.9514-3C>T	HSPG2	Single nucleotide variant (intron variant)	Connective tissue disorder +2 more	GBenign/Likely benign
Select item 295759	NM_005529.7(HSPG2):c.9476G>A (p.Arg3159Gln)	HSPG2 (R3159Q +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +4 more	GUncertain significance
Select item 439800	NM_005529.7(HSPG2):c.9329-8_9329-7delinsTT	HSPG2	Indel (intron variant)	not provided	GBenign/Likely benign
Select item 780222	NM_005529.7(HSPG2):c.9327C>T (p.His3109=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 618687	NM_005529.7(HSPG2):c.9234C>T (p.Ile3078=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709329	NM_005529.7(HSPG2):c.9060G>A (p.Arg3020=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 439806	NM_005529.7(HSPG2):c.9040G>A (p.Gly3014Arg)	HSPG2 (G3014R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 295764	NM_005529.7(HSPG2):c.8983A>G (p.Ser2995Gly)	HSPG2 (S2995G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 284368	NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 289426	NM_005529.7(HSPG2):c.8941G>A (p.Val2981Ile)	HSPG2 (V2981I +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 295765	NM_005529.7(HSPG2):c.8939T>A (p.Leu2980His)	HSPG2 (L2980H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 439807	NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp)	HSPG2 (R2977W +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +3 more	GBenign/Likely benign
Select item 993604	NM_005529.7(HSPG2):c.8911-20T>A	HSPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 295768	NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg)	HSPG2 (G2950R +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GBenign
Select item 735869	NM_005529.7(HSPG2):c.8616+9G>A	HSPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 586007	NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg)	HSPG2 (G2852R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 289068	NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu)	HSPG2 (V2849L +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 993733	NM_005529.7(HSPG2):c.8544C>T (p.Cys2848=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709330	NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln)	HSPG2 (R2795Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1501194	NM_005529.7(HSPG2):c.8354C>T (p.Pro2785Leu)	HSPG2 (P2786L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289686	NM_005529.7(HSPG2):c.8336G>A (p.Arg2779Gln)	HSPG2 (R2779Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 736738	NM_005529.7(HSPG2):c.8330G>A (p.Arg2777Gln)	HSPG2 (R2778Q +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +3 more	GBenign/Likely benign

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