ClinVar for MedGen (Select 141630) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 530

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3018770	NM_000061.3(BTK):c.1350-9T>C	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 3018621	NM_000061.3(BTK):c.804T>C (p.Tyr268=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 3017489	NM_000061.3(BTK):c.240+15A>G	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 3017178	NM_000061.3(BTK):c.1349+7T>G	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 3016627	NM_000061.3(BTK):c.1751-18A>T	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 3015714	NM_000061.3(BTK):c.978C>A (p.Asp326Glu)	BTK (D326E +1 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia with growth hormone deficiency	GUncertain significance
Select item 3014242	NM_000061.3(BTK):c.1349+20C>T	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 3013759	NM_000061.3(BTK):c.1751-17T>C	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GBenign
Select item 3013110	NM_000061.3(BTK):c.974+17C>T	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 3010887	NM_000061.3(BTK):c.1908+18A>T	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 3010844	NM_000061.3(BTK):c.1976_*10del (p.Ser659_Ter660delinsXaa)	BTK	Deletion (stop lost)	X-linked agammaglobulinemia with growth hormone deficiency	GUncertain significance
Select item 3009581	NM_000061.3(BTK):c.1631+18A>T	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 3007193	NM_000061.3(BTK):c.1566+7C>T	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 3004577	NM_000061.3(BTK):c.1468C>T (p.Arg490Cys)	BTK (R524C +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked agammaglobulinemia with growth hormone deficiency	GUncertain significance
Select item 2998359	NM_000061.3(BTK):c.142-4T>C	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2997427	NM_000061.3(BTK):c.240+12_240+24del	BTK	Deletion (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GBenign
Select item 2996754	NM_000061.3(BTK):c.414G>T (p.Leu138=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia with growth hormone deficiency	GBenign
Select item 2995582	NM_000061.3(BTK):c.1524C>T (p.Ala508=)	BTK	Single nucleotide variant (intron variant +1 more)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2994376	NM_000061.3(BTK):c.516T>C (p.Asn172=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2993759	NM_000061.3(BTK):c.150C>A (p.Gly50=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2991975	NM_000061.3(BTK):c.258C>T (p.Ser86=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2989062	NM_000061.3(BTK):c.336C>T (p.Tyr112=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2987533	NM_000061.3(BTK):c.1632-18G>A	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2984445	NM_000061.3(BTK):c.357A>G (p.Glu119=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2981761	NM_000061.3(BTK):c.1177+8C>T	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2981339	NM_000061.3(BTK):c.543C>T (p.His181=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2980731	NM_000061.3(BTK):c.310-20C>A	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GBenign
Select item 2980149	NM_000061.3(BTK):c.99C>T (p.Thr33=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2977518	NM_000061.3(BTK):c.1882A>T (p.Thr628Ser)	BTK (T628S +2 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia with growth hormone deficiency	GUncertain significance
Select item 2971781	NM_000061.3(BTK):c.240+17G>C	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2962948	NM_000061.3(BTK):c.1664T>C (p.Val555Ala)	BTK (V379A +2 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia with growth hormone deficiency	GUncertain significance
Select item 2960821	NM_000061.3(BTK):c.520+18T>C	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2959824	NM_000061.3(BTK):c.1387G>A (p.Val463Ile)	BTK (V497I +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked agammaglobulinemia with growth hormone deficiency	GUncertain significance
Select item 2955209	NM_000061.3(BTK):c.1750+11A>G	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2919272	NM_000061.3(BTK):c.520+15C>G	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GBenign
Select item 2915222	NM_000061.3(BTK):c.573G>T (p.Thr191=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2912875	NM_000061.3(BTK):c.521-16G>C	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2909932	NM_000061.3(BTK):c.1485T>C (p.Thr495=)	BTK	Single nucleotide variant (synonymous variant +1 more)	X-linked agammaglobulinemia with growth hormone deficiency	GBenign
Select item 2909745	NM_000061.3(BTK):c.839+19G>A	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2909428	NM_000061.3(BTK):c.241-7A>G	BTK	Single nucleotide variant (intron variant)	BTK-related condition +1 more	GLikely benign
Select item 2909103	NM_000061.3(BTK):c.309+13C>T	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2908523	NM_000061.3(BTK):c.234G>A (p.Gln78=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2902336	NM_000061.3(BTK):c.397C>A (p.Arg133=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2900755	NM_000061.3(BTK):c.309+11T>C	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GBenign
Select item 2896997	NM_000061.3(BTK):c.776+16C>T	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2896508	NM_000061.3(BTK):c.1539G>A (p.Glu513=)	BTK	Single nucleotide variant (intron variant +1 more)	X-linked agammaglobulinemia with growth hormone deficiency	GBenign
Select item 2895437	NM_000061.3(BTK):c.520+19A>G	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2893081	NM_000061.3(BTK):c.141+16A>G	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2890859	NM_000061.3(BTK):c.593T>C (p.Leu198Ser)	BTK (L198S +1 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2890626	NM_000061.3(BTK):c.1632-20A>C	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GBenign
Select item 2890572	NM_000061.3(BTK):c.1178-9T>C	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2889433	NM_000061.3(BTK):c.1103-17CT[4]	BTK	Microsatellite (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2889115	NM_000061.3(BTK):c.840-17G>T	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2888834	NM_000061.3(BTK):c.1102+7A>G	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GBenign
Select item 2886959	NM_000061.3(BTK):c.589-12C>T	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2884922	NM_000061.3(BTK):c.589-13C>T	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2883961	NM_000061.3(BTK):c.522C>T (p.Ser174=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2883562	NM_000061.3(BTK):c.1909-20T>C	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2879578	NM_000061.3(BTK):c.561T>C (p.Pro187=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2877069	NM_000061.3(BTK):c.1416C>T (p.Ile472=)	BTK	Single nucleotide variant (synonymous variant +1 more)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2874148	NM_000061.3(BTK):c.1197A>G (p.Pro399=)	BTK	Single nucleotide variant (synonymous variant +1 more)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2873754	NM_000061.3(BTK):c.241-3C>T	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GBenign
Select item 2869908	NM_000061.3(BTK):c.141+12G>A	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2865749	NM_000061.3(BTK):c.1282G>C (p.Ala428Pro)	BTK (A428P +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked agammaglobulinemia with growth hormone deficiency	GUncertain significance
Select item 2865456	NM_000061.3(BTK):c.911T>G (p.Phe304Cys)	BTK (F304C +1 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia with growth hormone deficiency	GUncertain significance
Select item 2863767	NM_000061.3(BTK):c.26T>A (p.Ile9Asn)	BTK (I43N +1 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia with growth hormone deficiency	GUncertain significance
Select item 2862865	NM_000061.3(BTK):c.1349+11G>C	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2860848	NM_000061.3(BTK):c.1239T>G (p.Phe413Leu)	BTK (F413L +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked agammaglobulinemia with growth hormone deficiency	GUncertain significance
Select item 2860569	NM_000061.3(BTK):c.310-5C>T	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2854635	NM_000061.3(BTK):c.975-19T>G	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2854613	NM_000061.3(BTK):c.1632-15C>T	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2853386	NM_000061.3(BTK):c.456_457insACTT (p.Leu153fs)	BTK (L153fs +1 more)	Insertion (frameshift variant)	X-linked agammaglobulinemia with growth hormone deficiency	GPathogenic
Select item 2852256	NM_000061.3(BTK):c.37C>A (p.Arg13=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2850005	NM_000061.3(BTK):c.286G>T (p.Glu96Ter)	BTK (E130* +1 more)	Single nucleotide variant (nonsense)	X-linked agammaglobulinemia with growth hormone deficiency	GPathogenic
Select item 2849961	NC_000023.11:g.101358697del	BTK	Deletion	X-linked agammaglobulinemia with growth hormone deficiency	GPathogenic
Select item 2849086	NM_000061.3(BTK):c.52A>G (p.Lys18Glu)	BTK (K52E +1 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia with growth hormone deficiency	GUncertain significance
Select item 2848754	NM_000061.3(BTK):c.696T>C (p.Asp232=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2848699	NM_000061.3(BTK):c.895-7G>T	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2843937	NM_000061.3(BTK):c.1632-11_1632-6del	BTK	Deletion (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GUncertain significance
Select item 2840045	NM_000061.3(BTK):c.1365G>A (p.Glu455=)	BTK	Single nucleotide variant (synonymous variant +1 more)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2838377	NM_000061.3(BTK):c.758G>A (p.Arg253Lys)	BTK (R287K +1 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia with growth hormone deficiency	GUncertain significance
Select item 2837677	NM_000061.3(BTK):c.1178-8A>T	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2835812	NM_000061.3(BTK):c.861T>C (p.Thr287=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2833703	NM_000061.3(BTK):c.1559G>T (p.Arg520Leu)	BTK (R554L +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked agammaglobulinemia with growth hormone deficiency	GUncertain significance
Select item 2833331	NM_000061.3(BTK):c.953_956del (p.Ser318fs)	BTK (S318fs +1 more)	Deletion (frameshift variant)	X-linked agammaglobulinemia with growth hormone deficiency	GPathogenic
Select item 2832697	NM_000061.3(BTK):c.588+14C>G	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2828192	NM_000061.3(BTK):c.840-3C>G	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GUncertain significance
Select item 2826434	NM_000061.3(BTK):c.141+19A>C	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2824974	NM_000061.3(BTK):c.379del (p.Gln127fs)	BTK (Q127fs +1 more)	Deletion (frameshift variant)	X-linked agammaglobulinemia with growth hormone deficiency	GPathogenic
Select item 2824772	NM_000061.3(BTK):c.355G>A (p.Glu119Lys)	BTK (E153K +1 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia with growth hormone deficiency	GUncertain significance
Select item 2824582	NM_000061.3(BTK):c.1606A>T (p.Lys536Ter)	BTK (K360* +2 more)	Single nucleotide variant (nonsense)	X-linked agammaglobulinemia with growth hormone deficiency	GPathogenic
Select item 2822483	NM_000061.3(BTK):c.586C>A (p.Gln196Lys)	BTK (Q230K +1 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia with growth hormone deficiency	GUncertain significance
Select item 2821620	NM_000061.3(BTK):c.879A>G (p.Gln293=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2821073	NM_000061.3(BTK):c.1272G>A (p.Gln424=)	BTK	Single nucleotide variant (synonymous variant +1 more)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2819190	NM_000061.3(BTK):c.1377G>A (p.Gln459=)	BTK	Single nucleotide variant (synonymous variant +1 more)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2817165	NM_000061.3(BTK):c.754del (p.Trp252fs)	BTK (W286fs +1 more)	Deletion (frameshift variant)	X-linked agammaglobulinemia with growth hormone deficiency	GPathogenic
Select item 2817016	NM_000061.3(BTK):c.1571C>T (p.Ala524Val)	BTK (A348V +2 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia with growth hormone deficiency	GUncertain significance
Select item 2816249	NM_000061.3(BTK):c.1751-8C>T	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2814485	NM_000061.3(BTK):c.1750+16T>A	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GLikely benign
Select item 2811372	NM_000061.3(BTK):c.1694dup (p.Pro566fs)	BTK (P566fs +2 more)	Duplication (frameshift variant)	X-linked agammaglobulinemia with growth hormone deficiency	GPathogenic

<< First< Prev

Page of 6